Greenwood Genetic Center

Mucopolysaccharidosis (MPS) Enzyme Panel

This enzyme panel includes quantitative measurement of the activity for 10 MPS enzymes.

Hunter Syndrome (MPS II): Iduronate-2-Sulfatase Enzyme Analysis

This biochemical test is a quantitative measurement of iduronate-2-sulfatase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis II (MPS II), Hunter Syndrome. Demonstration of deficient iduronate-2-sulfatase enzyme activity is considered the gold standard to confirm a diagnosis of Mucopolysaccharidosis II (MPS II), Hunter Syndrome. In addition, it can be used to clarify molecular findings in the IDS gene and to follow up abnormal newborn screening results.

Hunter Syndrome (MPS II): Iduronate-2-Sulfatase Enzyme Analysis,This biochemical test is a quantitative measurement of iduronate-2-sulfatase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis II (MPS II), Hunter Syndrome. Demonstration of deficient iduronate-2-sulfatase enzyme activity is considered the gold standard to confirm a diagnosis of Mucopolysaccharidosis II (MPS II), Hunter Syndrome. In addition, it can be used to clarify molecular findings in the IDS gene and to follow up abnormal newborn screening results.,82657,14 days,iduronate-2-sulfatase,,$200 ,Hunter syndrome is an X-linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. Features include coarse facial appearance, short stature, hepatosplenomegaly, intellectual disability and joint stiffness. Typically, the disorder is diagnosed by enzymatic assay, however, the determination of carrier status using enzyme assay has proved problematic.,This test can be used to confirm a suspected Hunter syndrome diagnosis. Prenatal diagnosis and carrier testing via enzyme analysis are not available. ,Quantifies level of Iduronate-2-sulfatase via the 4-methylumbelliferyl substrate,,Enzyme activity can be measured in plasma, leukocytes, cultured fibroblasts, or dried blood spots. For plasma and leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. Alternatively, plasma can be removed from spun sample and sent frozen. For dried blood spot collection, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions. In addition, a dried blood spot or blood drawn in an EDTA tube can be used for Hunter syndrome molecular analysis and may be sent for DNA banking. Please indicate on the requisition if DNA should be banked for follow-up molecular testing.,Whole blood should be sent over overnight at ambient temperature. Plasma can be removed once the sample has been drawn and sent frozen on dry ice. Do not freeze whole blood. Cultured fibroblasts can be sent overnight at room temperature. For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Ship at ambient temperature. ,,,,Hunter Syndrome (MPS II): IDS Deletion/Duplication MLPA,Hurler/Hunter Syndrome (MPS I/II): Urine Monitoring (Total GAGs, DS, HS),Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel (DBS),Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),,,,,,,,,,,,,,,

Whole Exome Sequencing

Whole Exome Sequencing,Greenwood Diagnostic Labs’ WES test captures the entire exome with additional coverage for genes with known Mendelian disease associations. The average read depth for each exome is typically greater than 150X. The analysis and curation of variants is driven by the patient’s reported phenotype. Any variants included in the report are confirmed with Sanger sequencing. The standard WES test includes trio analysis with parents. Samples from siblings can be submitted in place of a parental specimen or in addition to parental samples. (Please note there may additional costs for submitting more than 2 family members in addition to the proband.) Singletons and duos will also be accepted if appropriate family member samples are not available. There is no default option for secondary findings. Patients and families must select whether or not to receive this information as part of the analysis. Each sample submitted as part of the WES analysis must be accompanied by a separate consent and requisition form.,Singleton Analysis: 81415 Duo Analysis: 81415, 81416 Trio Analysis: 81415, 81416×2 Reanalysis: 81417,10 weeks,,,Contact Lab,,,Next Generation Sequencing,In our experience, greater than 30% of patients have a pathogenic or likely pathogenic finding consistent with the reported phenotype. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is peripheral blood collected in an EDTA (purple top) tube – at least 2-3ml for pediatric patients and 5-6ml for adult patients. Saliva and extracted DNA are also acceptable sample types. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/Greenwood-Exome-Requisition-Form.pdf,,,,,,,,,,,,,,,,,,,,,

Dilated & Arrhythmogenic Cardiomyopathy NGS Panel

This panel of 51 genes is intended for patients with a diagnosis or clinical suspicion of Dilated & Arrhythmogenic Cardiomyopathy and is performed by Next Generation Sequencing (NGS).

Dilated & Arrhythmogenic Cardiomyopathy NGS Panel,This panel of 51 genes is intended for patients with a diagnosis or clinical suspicion of Dilated & Arrhythmogenic Cardiomyopathy and is performed by Next Generation Sequencing (NGS).,81439,8 weeks,,,$3,000 ,Familial dilated cardiomyopathy (DCM) is associated with thinning of cardiac muscle, resulting in enlargement of the affected chamber(s). Reduced efficiency of cardiac blood flow causes progressive thinning which, untreated, may result in heart failure. Onset of symptoms typically occurs in adulthood, and these include arrhythmia, dyspnea, extreme fatigue, exercise intolerance, syncope, and swelling of the lower extremities. In some cases, sudden cardiac death in an undiagnosed or asymptomatic individual can occur. Arrhythmogenic right ventricular cardiomyopathy (ARVC) occurs when right ventricular tissue breaks down and is replaced by fat and scar tissue. Heart palpitations, syncope, and swelling of the legs can occur. In addition, cardiac arrest may be triggered by exercise, so sudden death in young athletes has been reported with this condition. Disease presentation is highly variable, even within families. Treatments include pharmocologic therapies, implanted defibrillators, and in severe cases, heart transplant. While some types demonstrate autosomal recessive or X-linked inheritance, most forms are inherited in an autosomal dominant pattern. This panel consists of 51 genes that are associated with these conditions.,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,CytoScan Xon Microarray: 2-10 Genes,Duchenne/Becker Muscular Dystrophy: DMD Deletion/Duplication MLPA,QUICK Analysis,,,,,,,,,,,,,,,,,,

3-Methylcrotonylglycinuria: MCCC1/MCCC2 Sequencing

MCCC1 sequencing is a molecular test used to identify variants in one of the genes associated with 3-Methylcrotonylglycinuria.

3-Methylcrotonylglycinuria: MCCC1/MCCC2 Sequencing,MCCC1/MCCC2 sequencing is a molecular test used to identify variants in the genes associated with 3-Methylcrotonylglycinuria.,81406 x 2,2 weeks,,,$2,000 ,3-Methylcrotonylglycinuria (3MCC) is an autosomal recessive inborn error of leucine metabolism caused by the deficiency of 3-methylcrotonyl-CoA carboxylase. Patients are often identified through newborn screening. Mildly affected or asymptomatic mothers with 3MCC deficiency have also been identified through positive newborn screening in their children. The presentation of this disorder is highly variable with severe cases experiencing significant neurological abnormalities, psychomotor retardation, seizures, cardio-respiratory failure and coma. Ketoacidosis, hypoglycemia and hyperammonemia are often seen. Mild cases may be asymptomatic or display fatigue, muscle weakness and/or mild developmental delay. 3MCC can be caused by a mutation in either the gene coding the alpha subunit (MCCC1) or the beta subunit (MCCC2) of the enzyme.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,Sequencing of the MCCC1 and MCCC2 genes will detect mutations in 99% of individuals with 3MCC.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,,,,,,,,,,,,,,,,,,,,,

Aarskog Syndrome: FGD1 Sequencing

FGD1 sequencing is a molecular test used to identify variants in the gene associated with Aarskog syndrome.

Achondroplasia: FGFR3 Targeted Analysis

FGFR3 Targeted analysis is a molecular test used to identify common variants in the gene associated with Achondroplasia.

Achondroplasia: FGFR3 Targeted Analysis,FGFR3 testing is not offered as a panel. You must specify which condition is clinically suspected. Testing for each condition must be ordered individually and will be billed separately. If you request more than one test, please specify the order in which they should be run or if they should be run simultaneously. This molecular test is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,81403,2 weeks,,,$350 ,Achondroplasia patients will have short stature with disproportionately short limbs, frontal bossing and midface hypoplasia,,Sanger sequencing of selected exons,FGFR3 mutations will be identified in 99% of patients with Achondroplasia.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known or there are clinical features identified via ultrasound suggestive of a diagnosis in the fetus. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Craniosynostosis NGS Panel,Crouzon with Acanthosis Nigricans: FGFR3 Targeted Analysis,Hypochondroplasia: FGFR3 Targeted Analysis,Skeletal Dysplasia NGS Panel,Thanatophoric Dysplasia Type I: FGFR3 Targeted Analysis,Thanatophoric Dysplasia Type II: FGFR3 Targeted Analysis,,,,,,,,,,,,,,,

Acylcarnitine Profile

Quantitation of acylcarnitines

Adrenoleukodystrophy, X-Linked: ABCD1 Sequencing

ABCD1 sequencing is a molecular test used to identify variants in the gene associated with X-linked Adrenoleukodystrophy.

Adrenoleukodystrophy, X-Linked: ABCD1 Sequencing,ABCD1 sequencing is a molecular test used to identify variants in the gene associated with X-linked Adrenoleukodystrophy.,81405,3 weeks,,,$1,000 ,X-linked adrenoleukodystrophy is a neurological disorder characterized by MRI findings in the white matter and adrenal cortex and abnormal plasma concentrations of very long chain fatty acids. The condition can present in three different phenotypes, childhood cerebral form, adrenomyeloneuropathy, and Addison disease only. The childhood cerebral form has an onset of symptoms between ages 4-8 beginning with ADHD like symptoms with progressive cognitive, behavior, vision, hearing, and motor deterioration. Adrenomyeloneuropathy will usually present in males in their late twenties as sexual dysfunction, progressive paraparesis, sphincter disturbances and abnormalities in adrenocortical function. The mildest presentation is primary adrenocortical insufficiency without significant neurological involvement with onset ranging from two years to adulthood. Some carrier females may experience mild adrenomyeloneuropathy symptoms with a later age of onset., Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,Sequencing of the ABCD1 gene will detect a mutation in about 99% of affected males and about 93% of carrier females.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,,,Brain Tumor : EGFR Amplification Analysis,Brain Tumor : NEK1 Deletion Analysis,Brain Tumor : NF1 Deletion Analysis,Brain Tumor : PTEN Deletion Analysis,Brain Tumor : TP53 Deletion Analysis,Brain Tumor Panel,,,,,,,,,,,,,

Alpha-mannosidosis: Alpha-mannosidase Enzyme Analysis

This biochemical analysis of alpha-mannosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of alpha-mannosidosis. In addition, it can be used to clarify molecular findings in the MAN2B1 gene and to monitor patients undergoing treatment.

Alpha-mannosidosis: Alpha-mannosidase Enzyme Analysis,This biochemical test is a quantitative measurement of alpha-mannosidase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of alpha-mannosidosis. Demonstration of deficient alpha-mannosidase enzyme activity is considered the gold standard to confirm a diagnosis of alpha-mannosidosis. In addition, this assay can be used to clarify molecular findings in the MAN2B1 gene and to monitor patients undergoing treatment.,82657,2 weeks,Alpha-mannosidase,,$200 ,Alpha mannosidosis is an autosomal recessive lysosomal storage disorder caused by a deficiency of alpha-mannosidase enzyme activity. This condition demonstrates variable expressivity with three clinical phenotypes described as mild (type I), moderate (type II), and severe (type III), with onset varying from prenatal loss with type III to after 10 years of age with type I. Features can include mild or moderate intellectual disability, abnormalities in motor function, hearing loss, dysostosis multiplex, immunodeficiency, cataracts/corneal opacities, hepatosplenomegaly, and characteristic facial features.,,Quantitative analysis will be performed using liquid chromatography-tandem mass spectrometry.,,Enzyme activity can be measured in leukocytes, cultured fibroblasts, or dried blood spots. For leukocytes, please send 5-7 ml of whole blood in a green top (sodium heparin) tube. For dried blood spot collection, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions.,Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory within 24 hours of blood draw. Cultured fibroblasts can be sent overnight at room temperature. For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Ship at ambient temperature.,,https://ggc.org/wp-content/uploads/2020/12/Greenwood-Biochemical-Requisition.pdf,Alpha-mannosidosis: MAN2B1 Sequencing,Hearing Loss NGS Panel,Lysosomal Storage Disease Enzyme Panel (DBS),Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease NGS Panel,Oligosaccharidoses Enzyme Panel,Oligosaccharide Urine Analysis,Brain Tumor Panel,,,,,,,,,,,,,

Alpha-mannosidosis: MAN2B1 Sequencing

MAN2B1 sequencing is a molecular test used to identify variants in the gene associated with Alpha-Mannosidosis.

Alpha-mannosidosis: MAN2B1 Sequencing,MAN2B1 sequencing is a molecular test used to identify variants in the gene associated with Alpha-Mannosidosis.,81479,3 weeks,,,$1,500 ,Alpha mannosidosis is an autosomal recessive lysosomal storage disorder (LSD) caused a deficiency of alpha-mannosidase enzyme activity. This condition demonstrates variable expressivity with three clinical phenotypes described as mild (type I), moderate (type II), and severe (type III), with onset varying from prenatal loss with type III to after 10 years of age with type I. Features can include mild or moderate intellectual disability, abnormalities in motor function, hearing loss, dysostosis multiplex, immunodeficiency, cataracts/corneal opacities, hepatosplenomegaly, and characteristic facial features.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Alpha-mannosidosis: Alpha-mannosidase Enzyme Analysis,Hearing Loss NGS Panel,Lysosomal Storage Disease Enzyme Panel (DBS),Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease NGS Panel,Oligosaccharidoses Enzyme Panel,Oligosaccharide Urine Analysis,Brain Tumor Panel,,,,,,,,,,,,,

Amino Acid Analysis (CSF, Plasma, Urine)

Amino acids can be quantitatively measures in plasma, urine, and CSF for detection of abnormalities associated with inborn errors of metabolism.

Aminoglycoside-Induced Hearing Loss: MT-RNR1 Targeted Analysis

MTRNR1 Targeted analysis is a molecular test used to identify the A1555G variant associated with Aminoglycoside-induced hearing loss.

Aminoglycoside-Induced Hearing Loss: MT-RNR1 Targeted Analysis,MT-RNR1 Targeted analysis is a molecular test used to identify the A1555G variant associated with Aminoglycoside-induced hearing loss.,81401,2 weeks,,,$350 ,Exposure to aminoglycoside antibiotics such as gentamycin and tobramycin can lead to sensorineural, bilateral, and severe-to-profound hearing loss. A single base-pair substitution from an A to a G at position 1555 in the MT-RNR1 gene (encoding 12S ribosomal RNA) predisposes individuals to aminoglycoside ototoxicity. Evidence has shown that even a single dose of an aminoglycoside antibiotic results in irreversible hearing loss in Individuals with this mutation. The hearing loss is not dependent on aminoglycoside exposure. Approximately 40% of individuals with the A1555G mutation who have not been treated with aminoglycosides will develop hearing loss by 30 years of age, and the penetrance increases to 80% by age 65. The MTRNR1 gene is located within mitochondrial DNA, and the A1555G mutation is, therefore, transmitted by maternal inheritance. The mutation occurs as a homoplasmic change and has a prevalence of approximately 1% in the U.S. population.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,,,Brain Tumor : EGFR Amplification Analysis,Brain Tumor : IDH1 R132H Variant Analysis,Brain Tumor : NEK1 Deletion Analysis,Brain Tumor : NF1 Deletion Analysis,Brain Tumor : PTEN Deletion Analysis,Brain Tumor : TP53 Deletion Analysis,,,,,,,,,,,,,

Angelman Syndrome: (15q11q13) FISH Analysis

FISH analysis for Angelman syndrome is a cytogenetic test used to identify identify deletions or duplications in chromosome region 15q11q13.

Angelman Syndrome: (15q11q13) FISH Analysis,FISH analysis for Angelman syndrome is a cytogenetic test used to identify identify deletions or duplications in chromosome region 15q11q13.,88275, 88273, 88271, 88291,4 weeks,,15q11q13,$584 ,Angelman syndrome is characterized by severe motor and intellectual disability, absence of speech, ataxia and a characteristic open-mouthed face. Other features such as hypotonia, epilepsy and excessive laughter help in the diagnosis of the condition. Mutations in the ubiquitin-protein ligase E3A gene (UBE3A) located on chromosome 15 are known to be associated with a subset of Angelman syndrome cases. ,Fluorescence in situ hybridization is a molecular cytogenetic technique in which fluorescently labeled DNA probes are hybridized to metaphase spreads or interphase nuclei. Applications include identification of structurally abnormal chromosomes, including identification of marker chromosomes, detection of very small deletions (microdeletions), and rapid detection of Down syndrome and other numerical chromosome abnormalities; and the rapid detection of sex chromosomes and the SRY gene. FISH should be used in conjunction with G-banded chromosome analysis. FISH is performed upon request when a specific numerical or structural abnormality or microdeletion is suspected. FISH is also utilized to confirm microdeletions identified during high resolution chromosome analysis and to aid in identification of abnormal chromosomes.,,,FISH can be performed on any specimen that can be cultured for chromosome analysis. This includes blood in a green top (sodium heparin) tube, tissue, amniotic fluid, and chorionic villus sampling (CVS). Follow collection and transport guidelines specific for each tissue type. Studies requested should be indicated at the time of sample submission. Prenatal testing will be considered on a case-by-case basis as the lab would like to ensure there is an appropriate indication before accepting a prenatal specimen for testing. Appropriate indications include abnormal ultrasound findings, abnormal NIPT result, and/or family history with a known/identified genetic etiology. Contact the laboratory prior to sending a prenatal specimen to discuss your case with a lab genetic counselor. ,Will vary depending on sample type: Blood: Specimen should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day. Amniotic Fluid and CVS: Specimen should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day. Solid Tissue(such as skin biopsy, products of conception, or fetal tissue): Specimen should be kept at room temperature if it will be transported immediately. If specimen is not being immediately transported to the laboratory, it may be refrigerated; do not freeze. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day.,Considered on a case-by-case basis. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for most prenatal testing. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/Test-finder-forms/GGC-Cytogenetic-Requisition.pdf,Angelman Syndrome Methylation-Specific MLPA,Angelman Syndrome: UBE3A Sequencing,Whole-Genome SNP Microarray: Cytoscan HD Microarray,Whole-Genome SNP Microarray: Cytoscan Dx (FDA Cleared) Microarray,,,,,,,,,,,,,,,,,

Angelman Syndrome: UBE3A Sequencing

UBE3A sequencing is a molecular test used to identify variants in the gene associated with Angelman syndrome.

Angelman Syndrome: UBE3A Sequencing,UBE3A sequencing is a molecular test used to identify variants in the gene associated with Angelman syndrome.,81406,6 weeks,,,$1,500 ,Angelman syndrome is characterized by severe motor and intellectual disability, absence of speech, ataxia and a characteristic open-mouthed face. Other features such as hypotonia, epilepsy and excessive laughter help in the diagnosis of the condition. Mutations in the ubiquitin-protein ligase E3A gene (UBE3A) located on chromosome 15 are known to be associated with a subset of Angelman syndrome cases. UBE3A is specifically imprinted in the brain where it is only expressed from the maternal allele. In individuals that retain the clinical diagnosis of Angelman syndrome following normal methylation studies, UBE3A sequencing studies should be given strong consideration.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,UBE3A mutations account for approximately 11% of patients with Angelman syndrome.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Angelman Syndrome: (15q11q13) FISH Analysis,Angelman Syndrome Methylation-Specific MLPA,Epilepsy/Seizure NGS Panel,Rett/Angelman Syndrome NGS Panel,Syndromic Autism NGS Panel,,,,,,,,,,,,,,,,

Angelman Syndrome Methylation-Specific MLPA

Angelman syndrome Methylation-Specific MLPA is a molecular test used to detect copy number variants and methylation abnormalities associated with Angelman syndrome.

Angelman Syndrome Methylation-Specific MLPA,Angelman syndrome Methylation-Specific MLPA is a molecular test used to detect copy number variants and methylation abnormalities associated with Angelman syndrome.,81331,3 weeks,,,$600,Angelman syndrome is an example of a disorder involving imprinted genes. Imprinted genes are only expressed from either the maternally or paternally derived member of a homologous chromosome pair. Angelman syndrome is characterized by significant developmental delay or intellectual disability, severe speech impairment, an ataxic gait, and inappropriate happy behavior including excessive laughing and smiling. Other physical concerns include microcephaly, seizures, wide mouth and a prominent mandible. Angelman syndrome is caused by the lack of expression of the maternally inherited region of chromosome 15 (15q11.2-q13). This lack of expression can be caused by a deletion of the maternal chromosome, paternal uniparental disomy (UPD), a mutation in the UBE3A gene in this region, or an imprinting defect.,Methylation testing and copy number status is useful to confirm the diagnosis. Further testing may be necessary to determine the etiology of the disorder and to allow for carrier testing and prenatal diagnosis.,A methylation sensitive multiplex ligation-dependent probe amplification (MLPA) assay is used to determine methylation status at 15q11.2-q13 as well as any copy number variants in this region. If an abnormal methylation pattern is identified, then pyrosequencing is performed to quantify the methylation at these sites as needed.,Methylation analysis for Prader-Willi/Angelman syndromes will detect nearly all cases of Prader-Willi syndrome and approximately 78% of patients with Angelman syndrome.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Angelman Syndrome: (15q11q13) FISH Analysis,Angelman Syndrome: UBE3A Sequencing,,,,,,,,,,,,,,,,,,,

Aortic Dysfunction/Dilation & Related Disorders NGS Panel

This panel of 20 genes is intended for patients with a diagnosis or clinical suspicion of aortic dysfunction or dilation and related disorders and is performed by Next Generation Sequencing (NGS).

Aortic Dysfunction/Dilation & Related Disorders NGS Panel,This panel of 20 genes is intended for patients with a diagnosis or clinical suspicion of aortic dysfunction or dilation and related disorders, and is performed by Next Generation Sequencing (NGS).,81410,8 weeks,,,$3,000 ,This panel consists of 20 genes that have been associated with syndromic and non-syndromic forms of thoracic aortic aneurysm and dissection (TAAD). Complications from these disorders can occur at any age, and the presentation can be extremely variable. Inheritance is most often autosomal dominant with incomplete penetrance, but some forms of familial TAAD appear to follow an autosomal recessive pattern. Syndromic conditions that include the potential for aortic dysfunction include the following: Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, congenital contractural arachnodactyly, Shprintzen-Goldberg syndrome, and arterial tortuosity syndrome. In addition to cardiovascular findings, skeletal manifestations are common, while craniofacial changes may or may not be present. Non-syndromic familial thoracic aortic aneurysm exhibits heterogeneity, and not all causative genes have been identified. Medical surveillance and intervention ranging from medication, routine imaging studies, and surgical correction is critical to reduce the incidence of serious or fatal cardiovascular complications.,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of the aortic dysfunction or dilation panel covers the coding region for all 20 genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution microarray. ,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Connective Tissue Disorders NGS Panel,,Marfan Syndrome: FBN1 Sequencing,QUICK Analysis,CytoScan Xon Microarray: More than 10 Genes,,,,,,,,,,,,,,,,

Array Confirmation: Parental and Family Studies

This test is used to analyze parents and family members for copy number variants (CNVs) identified in the proband via microarray.

ARX-Related Spectrum of X-Linked Intellectual Disability (XLID): ARX Sequencing

ARX sequencing is a molecular test used to identify variants in the gene associated with ARX-Related X-Linked Intellectual Disability XLID.

ARX-Related Spectrum of X-Linked Intellectual Disability (XLID): ARX Sequencing,ARX sequencing is a molecular test used to identify variants in the gene associated with ARX-Related X-Linked Intellectual Disability XLID.,81404,6 weeks,,,$1,000 ,ARX is an X-linked disorder that can include non-syndromic intellectual disability or a broader phenotype including intellectual disability of West syndrome (infantile spasms), Partington syndrome (dystonic movements, ataxia and seizures) or X-linked hydrocephalus with ambiguous genitalia. ARX is localized to Xp21.1. Two mutations, a 24bp duplication and a 21bp insertion, in exon 2 of ARX account for a significant proportion of the alterations within the gene. Carrier females have no discernable phenotype. ,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Epilepsy/Seizure NGS Panel,Rett/Angelman Syndrome NGS Panel,Syndromic Autism NGS Panel,X-Linked Intellectual Disability (XLID) NGS Panel,,,,,,,,,,,,,,,,,

Aspartylglucosaminuria: AGA Sequencing

AGA sequencing is a molecular test used to identify variants in the gene associated with Aspartylglucosaminuria.

Aspartylglucosaminuria: AGA Sequencing,AGA sequencing is a molecular test used to identify variants in the gene associated with Aspartylglucosaminuria.,81479,3 weeks,,,$1,000 ,Aspartylglucosaminuria is a rare lysosomal storage disorder (LSD) characterized primarily by progressive intellectual disability. Patients with this disorder typically have some skeletal and connective tissue abnormalities, and mildly coarse features. Frequent infections, behavioral changes, cardiomyopathy, and changes in the facial skin have also been reported in association with this LSD.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Aspartylglucosaminuria: Aspartyglucosaminidase Enzyme Analysis,Lysosomal Storage Disease NGS Panel,Oligosaccharide Urine Analysis,Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease Enzyme Panel (DBS),Oligosaccharidoses Enzyme Panel,,,,,,,,,,,,,,,

Aspartylglucosaminuria: Aspartyglucosaminidase Enzyme Analysis

This biochemical analysis of Aspartyglucosaminidase enzyme activity can be used for patients with a clinical suspicion of Aspartylglucosaminuria or to clarify molecular findings in the AGA gene.

Aspartylglucosaminuria: Aspartyglucosaminidase Enzyme Analysis,This biochemical test is a quantitative measurement of Aspartyglucosaminidase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Aspartylglucosaminuria. Demonstration of deficient Aspartyglucosaminidase enzyme activity is considered the gold standard to confirm a diagnosis of Aspartylglucosaminuria. In addition, this assay can be used to clarify molecular findings in the AGA gene and to monitor patients undergoing treatment.,82657,2 weeks,Aspartyglucosaminidase,,$200 ,Aspartylglucosaminuria is a rare lysosomal storage disorder (LSD) characterized primarily by progressive intellectual disability. Patients with this disorder typically have some skeletal and connective tissue abnormalities, and mildly coarse features. Frequent infections, behavioral changes, cardiomyopathy, and changes in the facial skin have also been reported in association with this LSD.,Patients with a suspected diagnosis of aspartylglucosaminuria. ,,,Enzyme activity can be measured in plasma, leukocytes, or dried blood spots. For plasma, please send 5-10 ml of whole blood in a green top (sodium heparin) tube OR plasma can removed from spun down sample and sent frozen. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. For dried blood spot collection, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions. ,Whole blood samples (for leukocyte or plasma analysis) should be shipped at ambient temperature and must arrive at the laboratory the next day. Plasma that has been separated and frozen should be shipped frozen, preferrably on dry ice. For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples can be mailed at ambient temperature.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Aspartylglucosaminuria: AGA Sequencing,Lysosomal Storage Disease Enzyme Panel (DBS),Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease NGS Panel,Oligosaccharidoses Enzyme Panel,Oligosaccharide Urine Analysis,,,,,,,,,,,,,,,

Bardet-Biedl Syndrome NGS Panel

This panel of 26 genes intended for patients with a diagnosis or clinical suspicion of Bardet-Biedl Syndrome and is performed by next generation sequencing.

Bardet-Biedl Syndrome NGS Panel,This panel of 26 genes intended for patients with a diagnosis or clinical suspicion of Bardet-Biedl Syndrome and is performed by next generation sequencing.,81479,8 weeks,,,$3,000 ,This panel consists of 26 genes that have been associated with Bardet-Biedl syndrome (BBS). Most types of BBS are autosomal recessive disorders. The primary clinical features of BBS include cone-rod dystrophy leading to blindness, truncal obesity, polydactyly, cognitive impairment, and renal abnormalties.,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,CytoScan Xon Microarray: 2-10 Genes,QUICK Analysis,Retinitis Pigmentosa NGS Panel,,,,,,,,,,,,,,,,,,

Beare-Stevenson with Cutis Gyrata: FGFR2 Targeted Analysis

FGFR2 Targeted analysis is a molecular test used to identify common variants in the gene associated with Beare-Stevenson w/ cutis gyrata.

Beckwith-Wiedemann Syndrome Methylation-Specific MLPA

BWS Methylation-Specific MLPA is a molecular test used to detect copy number variants or methylation abnormalities associated with Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann Syndrome Methylation-Specific MLPA,BWS Methylation-Specific MLPA is a molecular test used to detect copy number variants or methylation abnormalities associated with Beckwith-Wiedemann syndrome.,81401,3 weeks,,,$600 ,BWS is the most common overgrowth syndrome characterized by large organs and body size. Macroglossia, ear lobe creases, helical creases, and omphalocele are common features as well. Patients with BWS are at an increased risk for embryonal tumors in childhood. These individuals typically have normal intelligence and attain a normal height and weight in adulthood. BWS is casued by alterations in methylation at two imprinting centers at 11p15.5.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,A methylation sensitive multiplex ligation-dependent probe amplification (MLPA) assay is used to determine methylation status at the two imprinting centers and to identify microdeletions or duplications. If an abnormal methylation pattern is identified, then pyrosequencing is performed to quantify the methylation at these sites. ,This testing will detect approximately 75% of cases of BWS. This includes about 55% of cases with an isolated imprinting defect, 20% of cases with paternal UPD, and less than 1% of cases with a deletion or duplication.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known or there are clinical features identified via ultrasound suggestive of a diagnosis in the fetus. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Beckwith-Wiedemann Syndrome (BWS): CDKN1C Sequencing,Overgrowth/Macrocephaly NGS Panel,Vascular Malformation NGS Panel,,,,,,,,,,,,,,,,,,

Beckwith-Wiedemann Syndrome (BWS): CDKN1C Sequencing

CDKN1C sequencing is a molecular test used to identify variants in the gene associated with Beckwith-Wiedemann Syndrome.

Beckwith-Wiedemann Syndrome (BWS): CDKN1C Sequencing,CDKN1C sequencing is a molecular test used to identify variants in the gene associated with Beckwith-Wiedemann Syndrome.,81479,3 weeks,,,$500 ,BWS is the most common overgrowth syndrome characterized by large organs and body size. Macroglossia, ear lobe creases, helical creases, and omphalocele are common features as well. Patients with BWS are at an increased risk for embryonal tumors in childhood. These individuals typically have normal intelligence and attain a normal height and weight in adulthood. BWS is casued by alterations in methylation at two imprinting centers at 11p15.5.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,5-10% of de novo cases of BWS will have a sequence alteration in the CDKN1C gene. Sequencing of this gene identifies a pathogenic maternally inherited variant in 40% of familial cases. ,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known or there are clinical features identified via ultrasound suggestive of a diagnosis in the fetus. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Beckwith-Wiedemann Syndrome Methylation-Specific MLPA,Overgrowth/Macrocephaly NGS Panel,Vascular Malformation NGS Panel,,,,,,,,,,,,,,,,,,

Beta-mannosidosis: Beta-mannosidase Enzyme Analysis

This biochemical analysis of Beta-mannosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Beta-mannosidosis.

Beta-mannosidosis: Beta-mannosidase Enzyme Analysis,This biochemical test is a quantitative measurement of beta-mannosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of beta-mannosidosis. Demonstration of deficient beta-mannosidase enzyme activity is considered the gold standard to confirm a diagnosis of beta-mannosidosis.,82657,14 days,Beta-mannosidase,,$200 ,Beta-mannosidosis is one of the glycoproteinosis disorders, a subcategory of very rare lysosomal storage diseases. Patients with beta-mannosidosis typically have some degree of developmental delay or intellectual disability. Most of these patients have mild or no dysmorphic features. Behavior abnormalities, angiokeratomas, seizures, demyelinating peripheral neuropathy, and deafness have all been reported in association with beta-mannosidosis.,This test can be used to confirm a suspected Beta-mannosidosis syndrome diagnosis.,Quantifies level of beta-mannosidase via the 4-methylumbelliferyl substrate.,,Enzyme activity can be measured in leukocytes, cultured fibroblasts, or dried blood spots. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. For dried blood spot collection, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions.,Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory within 24 hours of blood draw. Cultured fibroblasts can be sent overnight at room temperature. For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Ship at ambient temperature.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Beta-mannosidosis: MANBA Sequencing,Lysosomal Storage Disease Enzyme Panel (DBS),Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease NGS Panel,Oligosaccharidoses Enzyme Panel,Oligosaccharide Urine Analysis,,,,,,,,,,,,,,,

Beta-mannosidosis: MANBA Sequencing

MANBA sequencing is a molecular test used to identify variants in the gene associated with Beta-mannosidosis.

Beta-mannosidosis: MANBA Sequencing,MANBA sequencing is a molecular test used to identify variants in the gene associated with Beta-mannosidosis.,81479,3 weeks,,,$1,000 ,Beta-mannosidosis is one of the glycoproteinosis disorders, a subcategory of very rare lysosomal storage diseases. Patients with beta-mannosidosis typically have some degree of developmental delay or intellectual disability. Most of these patients have mild or no dysmorphic features. Behavior abnormalities, angiokeratomas, seizures, demyelinating peripheral neuropathy, and deafness have all been reported in association with beta-mannosidosis.,This test can be used to confirm a suspected Beta-mannosidosis syndrome diagnosis Molecular analysis of the gene for Beta-mannosidosis (MANBA) is also available for identification of the causative mutation within a family, carrier status and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Beta-mannosidosis: Beta-mannosidase Enzyme Analysis,CytoScan Xon Microarray: Single Gene Analysis,Lysosomal Storage Disease Enzyme Panel (DBS),Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease NGS Panel,Oligosaccharidoses Enzyme Panel,Oligosaccharide Urine Analysis,,,,,,,,,,,,,,

Biotinidase Deficiency: Biotinidase Enzyme Analysis

This biochemical analysis of biotinidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Biotinidase Deficiency. In addition, it can be used to clarify molecular findings in the BTD gene, to follow up abnormal newborn screening results, and to monitor patients undergoing treatment.

Biotinidase Deficiency: Biotinidase Enzyme Analysis,This biochemical test is a quantitative measurement of biotinidase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Biotinidase Deficiency. Demonstration of deficient biotinidase enzyme activity is considered the gold standard to confirm a diagnosis of Biotinidase Deficiency. In addition, this assay can be used to clarify molecular findings in the BTD gene, to follow up abnormal newborn screening results, and to monitor patients undergoing treatment.,82261,10 days,Biotinidase,,$200 ,Biotinidase deficiency is an autosomal recessive inborn error of metabolism in which infants appear normal at birth. However, if untreated, affected infants can develop symptoms including hypotonia, ataxia, seizures, developmental delay, vision and hearing loss and cutaneous problems (eg. alopecia, dermatitis, eczema). Those diagnosed at birth should remain asymptomatic if treatment is initiated early and maintained. Biotinidase deficiency is typically detected very early because of newborn screening programs, which measure biotinidase activity in dried blood spots.,Measurement of biotinidase activity in plasma or serum is available to confirm a new diagnosis and to determine whether the patient has partial or complete biotinidase deficiency. Prenatal diagnosis and carrier testing via enzyme analysis are not available.,Biotinidase enzyme activity is determined using a p-amidobenzoic acid (PABA) colorimetric reaction that is measured by spectrophotometry at a wavelength of 546nm.,,Biotinidase activity can be assessed in either serum or plasma samples. Collect 5 ml whole blood for serum in a red top tube. Collect 5 ml of whole blood for plasma in a sodium heparin green top tube. Samples can be sent to lab as whole blood if they will arrive within 24 hours of blood draw. Alternatively, samples can be spun down and the plasma/serum pulled off and frozen before shipping. 1 ml of serum or plasma is needed for this test. ,Send via courier or 24-hour delivery at room temperature. Or if plasma/serum is separate, send frozen on dry ice (preferred).,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Biotinidase Deficiency: BTD Sequencing,Coffin-Siris Syndrome NGS Panel,,,,,,,,,,,,,,,,,,,

Biotinidase Deficiency: BTD Sequencing

BTD sequencing is a molecular test used to identify variants in the gene associated with Biotinidase deficiency.

Biotinidase Deficiency: BTD Sequencing,BTD sequencing is a molecular test used to identify variants in the gene associated with Biotinidase deficiency.,81404,2 weeks,,,$1,000 ,Biotinidase deficiency is an inborn error of metabolism caused by the deficiency of the enzyme biotinidase. Infants with biotinidase deficiency appear normal at birth. However, if untreated, affected infants can develop symptoms including hypotonia, ataxia, seizures, developmental delay, vision and hearing loss and cutaneous problems (eg. alopecia, dermatitis, eczema). Those diagnosed at birth should remain asymptomatic if treatment is initiated early and maintained.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,Sequencing of BTD will detect a mutation in 95% of individuals with biotinidase deficiency.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Biotinidase Deficiency: Biotinidase Enzyme Analysis,CytoScan Xon Microarray: Single Gene Analysis,,,,,,,,,,,,,,,,,,,

Brugada Syndrome NGS Panel

This panel of 18 genes is intended for patients with a diagnosis or clinical suspicion of Brugada Syndrome and is performed by Next Generation Sequencing (NGS).

Brugada Syndrome NGS Panel,This panel of 18 genes is intended for patients with a diagnosis or clinical suspicion of Brugada Syndrome and is performed by Next Generation Sequencing (NGS).,81479,8 weeks,,,$3,000 ,Brugada syndrome is associated with ventricular arrhythmias that may result in sudden death in adulthood (SUNDS) or infancy (SIDS). Conduction abnormalities include right bundle branch block, AV block, and sick sinus syndrome. Cardiac arrest may be the first indictaion of this disorder, but other affected individuals experience syncope and ventricular fibrillation with worsening symptoms associated with high fevers. Treatment of affected individuals requires an implanted defibrillator with close monitoring in high-risk situations such as surgery. Brugada syndrome is usually inherited in an autosomal dominant pattern. This panel consists of 18 genes that are associated with this condition.,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Comprehensive Cardiac NGS Panel,CytoScan Xon Microarray: 2-10 Genes,QUICK Analysis,,,,,,,,,,,,,,,,,,

C5-DC (Glutarylcarnitine) Analysis

Measurement of urine glutarylcarnitine (C5-DC) is available to detect glutaric acidemia, particularly type I (GA1). Patients are often identified via newborn screening. However, some patients are low excretors and can exhibit normal or mildly elevated biochemical analytes making a definitive diagnosis of GA1 difficult without molecular analysis.

Carnitine Analysis, Total and Free

Measurement of free and total carnitine levels are important for determining the validity of acylcarnitine profiles as well as following patients under carnitine supplementation.

Carnitine Palmitoyltransferase IA Deficiency: CPT1A Sequencing

CPT1A sequencing is a molecular test used to identify variants in the gene associated with Carnitine Palmitoyltransferase IA Deficiency.

Carnitine Palmitoyltransferase II Deficiency: CPT2 Sequencing

CPT2 sequencing is a molecular test used to identify variants in the gene associated with Carnitine Palmitoyltransferase II Deficiency.

Carnitine Palmitoyltransferase II Deficiency: CPT2 Sequencing,CPT2 sequencing is a molecular test used to identify variants in the gene associated with Carnitine Palmitoyltransferase II Deficiency.,81404,2 weeks,,,$1,000 ,Carnitine palmitoyltransferase II deficiency is an autosomal recessive disorder of long-chain fatty acid oxidation with three variable phenotypes described. The lethal neonatal form and the severe infantile hepatocardiomuscular form are severe multisystemic disorders. These patients have hypoketotic hypoglycemia with liver failure, cardiomyopathy, seizures, and early death. The 3rd clinical presentation is less a severe myopathic form characterized by exercise-induced muscle pain and weakness, sometimes with myoglobinuria.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,Sequencing of the CPT2 gene will detect a mutataion in more than 95% of individuals with deficient enzyme activity.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Rhabdomyolysis & Metabolic Myopathies NGS Panel,CytoScan Xon Microarray: Single Gene Analysis,,,,,,,,,,,,,,,,,,,

Charcot-Marie-Tooth Disease Type 1A: PMP22 Deletion/Duplication MLPA

PMP22 MLPA is a molecular test used to identify deletions or duplications in the gene associated with Charcot-Marie-Tooth Disease Type 1A.

Charcot-Marie-Tooth Disease Type 1A: PMP22 Deletion/Duplication MLPA,PMP22 MLPA is a molecular test used to identify deletions or duplications in the gene associated with Charcot-Marie-Tooth Disease Type 1A.,81324,2 weeks,,,$500 ,Charcot-Marie-Tooth (CMT) disease is the most common form of inherited peripheral neuropathy, and these conditions have a prevalence of approximately 1 in 3000 individuals. Clinical symptoms include distal muscle weakness with atrophy, loss of deep tendon reflexes, high-arched feet, and loss of sensation. These conditions tend to be progressive, and while most families demonstrate autosomal dominant inheritance, autosomal recessive and X-linked inheritance also occurs. Symptoms and age of onset are variable, but early signs of the disorder include clumsiness, balance problems, and difficulty using the hands to grasp. Hearing loss occurs in some affected individuals, and eventually, some patients require the assistance of a wheelchair. Lifespan and intelligence are not typically affected. Charcot-Marie-Tooth disease is comprised of several types and subtypes. CMT1 is responsible for almost half of all cases of CMT, with CMT2 and CMTX making up an additional 10-15% each. Within the CMT1 type, about 70-80% of cases are due to changes in the PMP22 most often associated with a duplication involving chromosome 17p12. Reciprocal deletions of this region are associated with hereditary neuropathy with liability to pressure palsies, HNPP.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,multiplex ligation-dependent probe amplification (MLPA),An estimated 30-50% of patients diagnosed with Charcot-Marie-Tooth disease will have a copy number variant in the PMP22 gene. This analysis also detects deletions and duplications in the MPZ and GJB1 genes although sequence variants in these two genes are more common than copy number variants. This test is available individually or as first-tier testing with reflex to the Charcot-Marie-Tooth Hereditary Neuropathy 54-gene panel.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Charcot-Marie-Tooth Hereditary Neuropathy NGS Panel,,,,,,,,,,,,,,,,,,,,

Charcot-Marie-Tooth Hereditary Neuropathy NGS Panel

This panel of 54 genes intended for patients with a diagnosis or clinical suspicion of Charcot-Marie-Tooth Hereditary Neuropathy and is performed by Next Generation Sequencing (NGS).

Charcot-Marie-Tooth Hereditary Neuropathy NGS Panel,This panel of 54 genes intended for patients with a diagnosis or clinical suspicion of Charcot-Marie-Tooth Hereditary Neuropathy and is performed by Next Generation Sequencing (NGS).,81448,8 weeks,,,$3,000 ,This panel consists of 54 genes that have been associated with Charcot-Marie-Tooth disease and other motor neuropathies. These conditions affect the peripheral nervous system and include symptoms of muscle weakness, decreased reflexes, foot deformities, and loss of sensation. These conditions can be inherited in autosomal dominant, autosomal recessive, and X-linked patterns, and these disorders exhibit variable clinical presentation, age of onset, degree of severity, and disease progression.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Charcot-Marie-Tooth Disease Type 1A: PMP22 Deletion/Duplication MLPA,CytoScan Xon Microarray: 2-10 Genes,QUICK Analysis,,,,,,,,,,,,,,,,,,

CHD7-Related Disorders: CHD7 Sequencing

CHD7 sequencing is a molecular test used to identify variants in the gene associated with CHD7-related disorders including CHARGE syndrome and Kallman syndrome 5.

Chromosome 14 UPD Analysis

Comparative analysis between proband and parental samples for markers on chromosome 14.

Chromosome 14 UPD Analysis,Comparative analysis between proband and parental samples for markers on chromsome 14.,81402,3 weeks,,Chromosome 14,$500 ,Uniparental disomy describes the abnormal assortment of chromosomes from parent to child. Normally, one-half of the genetic material is derived from each parent. In uniparental disomy, the chromosome number is correct, but both members of a chromosome pair or segments of a chromosome pair are inherited from the same parent. The detection of uniparental disomy involves PCR analysis of genetic material from the affected child and both parents. ,UPD testing is useful to confirm the diagnosis and to identify the etiology of the disorder within a family as well as to establish the inheritance of Robertsonian translocations.,,Maternal UPD 14 causes approximately 60-75% of Temple syndrome and paternal UPD 14 causes approximately 55-70% of Kagami-Ogata syndrome. (Hum Mol Genet. 2020 Sep 30;29(R1):R107-R116),The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. This test requires a sample on the proband and both parents for complete analysis. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if there is a translocation in a parent and/or the fetus increasing the risk for UPD. The cost of prenatal diagnosis is different than a postnatal sample. In addition, there may be extra costs associated with cell culture and maternal cell contamination. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,EpiSign Complete,EpiSign Variant,,,,,,,,,,,,,,,,,,,

Chromosome 15 UPD Analysis

Comparative analysis between proband and parental samples for markers on chromosome 15.

Chromosome 15 UPD Analysis,Comparative analysis between proband and parental samples for markers on chromsome 15.,81402,3 weeks,,Chromosome 15,$500 ,Uniparental disomy describes the abnormal assortment of chromosomes from parent to child. Normally, one-half of the genetic material is derived from each parent. In uniparental disomy, the chromosome number is correct, but both members of a chromosome pair or segments of a chromosome pair are inherited from the same parent. The detection of uniparental disomy involves PCR analysis of genetic material from the affected child and both parents. ,UPD testing is useful to confirm the diagnosis and to identify the etiology of the disorder within a family as well as to establish the inheritance of Robertsonian translocations.,,UPD causes approximately 25% of cases of Prader-Willi syndrome and approximately 7% of cases of Angelman syndrome.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. This test requires a sample on the proband and both parents for complete analysis. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if there is a translocation in a parent and/or the fetus increasing the risk for UPD. The cost of prenatal diagnosis is different than a postnatal sample. In addition, there may be extra costs associated with cell culture and maternal cell contamination. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Angelman Syndrome Methylation-Specific MLPA,Prader-Willi Syndrome: (15q11q13) FISH Analysis,Angelman Syndrome: (15q11q13) FISH Analysis,Angelman Syndrome: UBE3A Sequencing,Prader-Willi Syndrome Methylation-Specific MLPA,EpiSign Complete,EpiSign Variant,,,,,,,,,,,,,,

Chromosome 7 UPD Analysis

Comparative analysis between proband and parental samples for markers on chromosome 7.

Chromosome 7 UPD Analysis,Comparative analysis between proband and parental samples for markers on chromsome 7.,81402,3 weeks,,Chromosome 7,$500 ,Uniparental disomy describes the abnormal assortment of chromosomes from parent to child. Normally, one-half of the genetic material is derived from each parent. In uniparental disomy, the chromosome number is correct, but both members of a chromosome pair or segments of a chromosome pair are inherited from the same parent. The detection of uniparental disomy involves PCR analysis of genetic material from the affected child and both parents. ,UPD testing is useful to confirm the diagnosis and to identify the etiology of the disorder within a family as well as to establish the inheritance of Robertsonian translocations.,,Maternal UPD of chromosome 7 accounts for about 7-10% of cases of Russell-Silver syndrome.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. This test requires a sample on the proband and both parents for complete analysis. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if there is a translocation in a parent and/or the fetus increasing the risk for UPD. The cost of prenatal diagnosis is different than a postnatal sample. In addition, there may be extra costs associated with cell culture and maternal cell contamination. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Russell-Silver Syndrome Methylation-Specific MLPA,EpiSign Complete,EpiSign Variant,,,,,,,,,,,,,,,,,,

Chromosome Analysis, High Resolution (Blood)

Chromosome Analysis, Routine (Blood)

Chromosome Analysis, Routine; Short Study (Blood)

Chromosome Analysis, Routine; Rule Out Mosaic (Blood)

Chromosome Analysis, Routine; Rule Out Mosaic (Solid Tissue/POC)

Chronic Myelomonocytic Leukemia (CMML) Panel

Chronic Myelomonocytic Leukemia (CMML) Panel is a FISH analysis that screens for CMML ( 12p13 [ETV6]) CMMLhighly suspected and/or cells fail to grow in culture. It is also used to look for minimal residual disease in patients undergoing treatment or in patients thought to be going into or coming out of remission..

Citrullinemia Type 1: ASS1 Sequencing

ASS1 sequencing is a molecular test used to identify variants in the gene associated with Citrullinemia, Type 1.

Citrullinemia Type 1: ASS1 Sequencing,ASS1 sequencing is a molecular test used to identify variants in the gene associated with Citrullinemia, Type 1.,81406,2 weeks,,,$1,500 ,Citrullinemia type I is an inborn error of amino acid metabolism caused by the deficiency of argininiosuccinate synthase (ASS1), which performs the third enzymatic step in the urea cycle, condensing citrulline and aspartic acid to form argininosuccinic acid. Patients are often identified by newborn screening, due to an accumulation of citrulline in the blood. Citrullinemia type I exhibits a broad clinical spectrum. Most patients present with a severe neonatal form characterized by hyperammonemia, vomiting, lethargy, failure to thrive, seizures, spasticity and increased intracranial pressure. Patients typically progress quickly to a coma and the disorder is fatal unless treated promptly. Other patients may exhibit a milder later-onset form of the disorder, and others appear to be asymptomatic., Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Amino Acid Analysis (CSF, Plasma, Urine),CytoScan Xon Microarray: Single Gene Analysis,Orotic Acid Analysis,,,,,,,,,,,,,,,,,,

Coffin-Lowry Syndrome: RPS6KA3 Sequencing

RPS6KA3 sequencing is a molecular test used to identify variants in the gene associated with Coffin-Lowry syndrome.

Coffin-Lowry Syndrome: RPS6KA3 Sequencing,RPS6KA3 sequencing is a molecular test used to identify variants in the gene associated with Coffin-Lowry syndrome.,81479,6 weeks,,,$1,500 ,Coffin-Lowry syndrome is an X-linked intellectual disability condition caused by mutations in the protein kinase gene, RPS6KA3, localized to Xp22. Males present with moderate to severe developmental delay, coarse facies, large soft hands with short tapering fingers, hypotonia, joint hyperextensibility and skeletal changes. Carrier females have mild intellectual impairment and short stature, coarse face, prominent lips, soft fleshy hands with thick tapering fingers. Decreased levels of ribosomal S6 kinase activity can be observed in white cells but usually only after establishing a cell line.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,A mutation in RPS6KA3 will be indentified in approximately 90-95% of patients with Coffin-Lowry syndrome. ,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,CytoScan Xon Microarray: Single Gene Analysis,X-Linked Intellectual Disability (XLID) NGS Panel,,,,,,,,,,,,,,,,,,,

Coffin-Siris Syndrome NGS Panel

This panel of 22 genes is intended for patients with a diagnosis or clinical suspicion of Coffin-Siris Syndrome and is performed by next generation sequencing.

Coffin-Siris Syndrome NGS Panel,This panel of 22 genes is intended for patients with a diagnosis or clinical suspicion of Coffin-Siris Syndrome and is performed by next generation sequencing.,81479,8 weeks,,,$3,000 ,This panel consists of 22 genes that have been associated with Coffin-Siris syndrome phenotypes. Features include intellectual disability and developmental delays, failure to thrive, hypotonia, short stature, and joint hyperextensibility. Characteristics facial features include wide mouth with thick lips, bushy brows and long lashes, and a wide and flat nasal bridge. Hirsutism is common although scalp hair is often sparse, and the nails on the fifth digits are typically absent or hypoplastic. Microcephaly may be present, and feeding difficulties are common. Most cases of Coffin-Siris are due to apparently de novo mutations in genes in the SWI-SNF pathway. ,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution microarray that complements the sequencing panel. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Biotinidase Deficiency: BTD Sequencing,Kabuki Syndrome: KMT2D Sequencing,Kabuki Syndrome 2: KDM6A Sequencing,Borjeson-Forssman-Lehmann Syndrome: PHF6 Sequencing,Cornelia de Lange Syndrome: NIPBL Sequencing,CytoScan Xon Microarray: 2-10 Genes,QUICK Analysis,,,,,,,,,,,,,,

Comprehensive Cardiac NGS Panel

This panel of 108 genes is intended for patients with a diagnosis or clinical suspicion of inherited cardiac disorders and is performed by next generation sequencing.

Comprehensive Cardiac NGS Panel,This panel of 108 genes is intended for patients with a diagnosis or clinical suspicion of inherited cardiac disorders and is performed by Next Generation Sequencing (NGS). This molecular test is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,81413,8 weeks,,,$3,500 ,The comprehensive panel consists of 108 genes that are associated with a variety of structural abnormalities, arrhythmias, and syndromic presentations. Cardiomyopathies often present later in life and may be genetic or related to lifestyle factors or other health issues. Signs and symptoms of dilated cardiomyopathy may include congestive heart failure, fatigue, and shortness of breath. Arrhythmias are also common, and thrombotic events are more prevalent. Individuals with hypertrophic cardiomyopathy may be asymptomatic or exhibit with a wide range of severity, even within the same family. Common features include shortness of breath and chest pain, and these findings can occur at younger ages than dilated forms. These disorders can be inherited as autosomal recessive, autosomal dominant, X-linked recessive, or X-linked dominant conditions. However, the inheritance pattern for some of these conditions is uncertain, and many of them exhibit incomplete penetrance. In addition to the comprehensive panel, four subpanels can also be requested for Brugada syndrome (18 genes), Dilated & Arrhythmogenic cardiomyopathies (51 genes), hypertrophic cardiomyopathy (24 genes), and Long QT syndrome (18 genes). ,,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution microarray to complement the sequencing panel. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Long QT Syndrome NGS Panel,Brugada Syndrome NGS Panel,Hypertrophic Cardiomyopathy NGS Panel,Dilated & Arrhythmogenic Cardiomyopathy NGS Panel,Aortic Dysfunction/Dilation & Related Disorders NGS Panel,Focused NGS – Single Gene,Focused NGS – Panel,CytoScan Xon Microarray: Single Gene Analysis,CytoScan Xon Microarray: 2-10 Genes,CytoScan Xon Microarray: More than 10 Genes,,,,,,,,,,,

Comprehensive Pulmonary NGS Panel

This panel of 124 genes is intended for patients with a diagnosis or clinical suspicion of inherited pulmonary disorders and is performed by next generation sequencing.

Comprehensive Pulmonary NGS Panel,This panel of 124 genes is intended for patients with a diagnosis or clinical suspicion of inherited pulmonary disorders and is performed by Next Generation Sequencing (NGS). This molecular test is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis. In addition to the comprehensive panel, four subpanels can also be requested when a more specific phenotype is present: Central Hyponventilation Syndrome Sequencing Panel (3 genes) Dyskeratosis Congenita Sequencing Panel (14 genes) Hermansky-Pudlak syndrome and Pulmonary Fibrosis Panel (40 genes) Primary Ciliary Dyskinesia and Cystic Fibrosis Panel (42 genes) Pulmonary Arterial Hypertension Panel (22 genes) Surfactant dysfunction & respiratory distress in premature infants Panel (11 genes) ,81479,8 weeks,,,$3,500 ,The comprehensive panel consists of 124 genes associated with a diverse and heterogeneous group of inherited pulmonary disorders. These disorders can be inherited as autosomal recessive, autosomal dominant, X-linked recessive, or X-linked dominant. However, the inheritance pattern for some of these conditions is uncertain, and many of them exhibit incomplete penetrance.,,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. Novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. Polyalanine expansion analysis is now included for the PHOX2B gene for patients with a central hypoventilation phenotype. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution microarray to complement the sequencing. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Cystic Fibrosis: CFTR Sequencing,CytoScan Xon Microarray: 2-10 Genes,Hermansky-Pudlak Syndrome & Pulmonary Fibrosis NGS Panel,Primary Ciliary Dyskinesia & Cystic Fibrosis NGS Panel,Pulmonary Arterial Hypertension NGS Panel,Central Hypoventilation Syndrome NGS Panel,Surfactant Dysfunction & Respiratory Distress in Premature Infants NGS Panel,CytoScan Xon Microarray: Single Gene Analysis,CytoScan Xon Microarray: More than 10 Genes,QUICK Analysis,Dyskeratosis Congenita NGS Panel,,,,,,,,,,

Cone-Rod Dystrophy NGS Panel

This panel of 37 genes is intended for patients with a diagnosis or clinical suspicion of Cone-Rod Dystrophy and is performed by Next Generation Sequencing.

Cone-Rod Dystrophy NGS Panel,This panel of 37 genes is intended for patients with a diagnosis or clinical suspicion of Cone-Rod Dystrophy and is performed by Next Generation Sequencing (NGS). This molecular test is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,81479,8 weeks,,,$3,000 ,This panel consists of 37 genes that have been associated with cone-rod dystrophy and related disorders including achromatopsia, retinal cone dystrophy, Jalili syndrome and some forms of Leber congenital amaurosis. Cone-rod dystrophy disorders demonstrate high genetic heterogeneity and can be inherited in an autosomal recessive, autosomal dominant, or X-linked manner. ,,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution microarray to complement the sequencing panel. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,CytoScan Xon Microarray: 2-10 Genes,QUICK Analysis,,,,,,,,,,,,,,,,,,,

Congenital Contractures NGS Panel

This panel of 57 genes is intended for patients with a diagnosis of Congenital Contractures and is performed by next generation sequencing.

Congenital Contractures NGS Panel,This panel of 57 genes is intended for patients with a diagnosis of Congenital Contractures and is performed by Next Generation Sequencing.This molecular test is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,81479,8 weeks,,,$3,000 ,Congenital contractures are defined by constrictions or rigidity of connective tissues including muscles, ligaments, and tendons resulting in decreased range of motion and stiffness. Contractures occur in numerous genetic disorders, but the features of these syndromes vary greatly and can affect a wide variety of body systems. Treatment is symptomatic and involves physical and occupational therapy, as well as surgical correction when necessary. While over half of these conditions are inherited in an autosomal recessive manner, many phenotypes caused by changes in the same gene have been reported with either dominant or recessive inheritance. In addition, two conditions demonstrate X-linked recessive inheritance.,,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution microarray to complement the sequencing panel. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Prenatal diagnosis can also be requested when there are clincial features and ultrasound findings suggestive of a diagnosis. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,CytoScan Xon Microarray: Single Gene Analysis,CytoScan Xon Microarray: 2-10 Genes,,,Marfan Syndrome: FBN1 Sequencing,QUICK Analysis,,,,,,,,,,,,,,,

Congenital Stationary Night Blindness (CSNB) NGS Panel

This panel of 15 genes intended for patients with a diagnosis or clinical suspicion of Congenital Stationary Night Blindness and is performed by next generation sequencing.

Congenital Stationary Night Blindness (CSNB) NGS Panel,This panel of 15 genes intended for patients with a diagnosis or clinical suspicion of Congenital Stationary Night Blindness (CSNB) and is performed by Next Generation Sequencing (NGS). This molecular test is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,81479,8 weeks,,,$2,500 ,This group of disorders is generally non-progressive with defective dark adaptation. Nystagmus and myopia are common with these conditions, but visual acuity can vary greatly.,,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,CytoScan Xon Microarray: 2-10 Genes,QUICK Analysis,,,,,,,,,,,,,,,,,,,

Connective Tissue Disorders NGS Panel

This panel of 35 genes is intended for patients with a diagnosis or clinical suspicion of Connective Tissue Disorders and is performed by next generation sequencing.

Connective Tissue Disorders NGS Panel,This panel of 35 genes is intended for patients with a diagnosis or clinical suspicion of Connective Tissue Disorders and is performed by next generation sequencing.,81410,8 weeks,,,$3,000 ,This panel consists of 35 genes associated with various forms of connective tissue disorders. Many patients with a suspected connective tissue disorder will present with similar features due to the clinical variability and the variable expressivity among this group of disorders. Making the specific diagnosis can be important in determining the appropriate medical management for features such as aortic dilatation or abnormal wound healing.,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Aortic Dysfunction/Dilation & Related Disorders NGS Panel,Copper Transport Disorders: ATP7A Sequencing,CytoScan Xon Microarray: 2-10 Genes,Marfan Syndrome: FBN1 Sequencing,QUICK Analysis,,,,,,,,,,,,,,,,

Connexin 26: GJB2 Sequencing

This test includes sequencing of the coding region.

Connexin 26: GJB2 Targeted Mutation Analysis

GJB2 Targeted Mutation analysis is a molecular test used to identify known variants in the gene associated with Connexin 26-Related hearing loss.

Connexin 26: GJB2 Targeted Mutation Analysis,GJB2 Targeted Mutation analysis is a molecular test used to identify known variants in the gene associated with Connexin 26-Related hearing loss.,81253,2 weeks,,,$350 ,The frequency of childhood deafness is estimated to be 1/500. Half of this hearing loss is genetic and approximately 80% of genetic hearing loss is nonsyndromic and inherited in an autosomal recessive manner. Approximately 50% of childhood nonsyndromic recessive hearing loss is caused by mutations in the connexin 26 (Cx26) gene (GJB2/DFNB1), making it the most common form of autosomal recessive nonsyndromic hearing loss with a carrier rate estimated to be as high as 1 in 36 (2.8%). Newborns with confirmed hearing loss should have Cx26 testing. Cx26 testing will help define a group in which approximately 60% will have profound or severe-profound hearing loss requiring aggressive language intervention. ,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,,Approximately 98% of individuals with DFNB1 will have two identifiable GJB2 mutations.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Connexin 26: GJB2 Sequencing,,,,,,,,,,,,,,,,,,,,

Copper Transport Disorders: ATP7A Sequencing

ATP7A sequencing is a molecular test used to identify variants in the gene associated with Copper Transport Disorders.

Copper Transport Disorders: ATP7A Sequencing,ATP7A sequencing is a molecular test used to identify variants in the gene associated with Copper Transport Disorders.,81479,6 weeks,,,$1,500 ,Mutations in the ATP7A gene can manifest as three distinct phenotypes related to copper transport dysfunction and are inherited in an X-linked manner. Related biochemical findings are usually present in Menkes disease and Occipital horn syndrome but not in the distal motor neuropathy phenotype. Individuals with Menkes disease usually become symptomatic around 2-3 months of age. These infants may present with regression of milestones, seizures, hypotonia, failure to thrive, and characteristic changes of the hair. The primary features of occipital horn syndrome include specific bony changes at the site of muscle attachment to the occipital bone. These individuals may have other findings as well including bladder diverticula, inguinal hernias, and lax joints and skin with either normal or slightly reduced intellect. The related distal motor neuropathy is typically progressive, adult-onset with distal muscle weakness and atrophy in feet and hands. Absent ankle reflexes are common.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,Sequencing of the ATP7A gene is expected to detect a mutation in about 80% of individuals with one of the above phenotypes.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,,,,,,,,,,,,,,,,,,,,,

Cornelia de Lange Syndrome NGS Panel

This panel of 5 genes is intended for patients with a diagnosis or clinical suspicion of Cornelia de Lange Syndrome and is performed by next generation sequencing.

Cornelia de Lange Syndrome NGS Panel,This panel of 5 genes is intended for patients with a diagnosis of Cornelia de Lange Syndrome and is performed by Next Generation Sequencing (NGS). This molecular test is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,81479,5 weeks,,,$2,000 ,Cornelia de Lange syndrome is characterized by growth retardation of prenatal onset, microcephaly, small hands and feet, limb abnormalities, and reflux. Dysmorphic features include synophrys, upturned nose, downturned mouth, and low-set ears. Long eyelashes are common as are hirsuitism and a coarsened appearance. Cleft palate, kidney abnormalities, and heart defects are present in some patients. Intellectual disability is common, and many individuals with Cornelia de Lange also experience hearing loss. Other issues may include self-injurious behaviors, obsessive-compulsive disorder, and autistic tendencies. Cornelia de Lange syndrome often results from de novo autosomal dominant mutations in NIPBL, RAD21, or SMC3, while SMC1A and HDAC8 demonstrate X-linked inheritance with both males and females exhibiting symptoms. Cornelia de Lange shows variable expressivity although individuals with NIPBL mutations tend to show more severe phenotypes. ,,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution microarray to complement this sequencing panel. The GGC Diagnostic Laboratory Directors and genetic counselors are available for further consultation regarding the limitations of the NGS and array testing procedures. ,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Cornelia de Lange Syndrome: NIPBL Sequencing,,,,,,,,,,,,,,,,,,,,

Craniosynostosis NGS Panel

This panel of 8 genes is intended for patients with a diagnosis of Craniosynostosis and is performed by next generation sequencing.

Craniosynostosis NGS Panel,This panel of 8 genes is intended for patients with a diagnosis of Craniosynostosis and is performed by Next Generation Sequencing (NGS). This molecular test is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,81479,5 weeks,,,$2,500 ,Craniosynostosis involves premature or disordered suture closure resulting in skull asymmetry. This condition occurs in approximately 1 in 2500 births, and most are inherited from an affected parent or occur as a de novo autosomal dominant mutation. However, a few of these conditions result from autosomal recessive inheritance including Antley-Bixler, Carpenter, and Baller-Gerold syndromes. Craniosynostosis syndromes exhibit genetic heterogeneity as well as phenotypic variability with features that may include facial dysmorphism, palatal abnormalities, short stature, proptosis, and developmental delays. Craniosynostosis may also occur as an isolated finding. The 8 genes included on this panel account for multiple distinct clinical phenotypes. ,,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution microarray to complement this sequencing panel. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Beare-Stevenson with Cutis Gyrata: FGFR2 Targeted Analysis,Crouzon with Acanthosis Nigricans: FGFR3 Targeted Analysis,FGFR2-Related Disorders: FGFR2 Sequencing,FGFR2-Related Disorders: FGFR2 Targeted Analysis,Non-Syndromic Craniosynostosis (also Muenke): FGFR3 Targeted Analysis,Saethre-Chotzen Syndrome: TWIST1 Deletion/Duplication MLPA,Saethre-Chotzen Syndrome: TWIST1 Sequencing,,,,,,,,,,,,,,

Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Urine)

Creatine biosynthesis disorders can be separated based on urine testing for guanidinoacetate (GAA) and creatine. Patients with AGAT (L-arginine:glycine amidinotransferase) deficiency show a low urinary GAA level while patients with GAMT (guanidinoacetate methyltransferase) deficiency have an elevated GAA level.

Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Plasma)

Creatine Transporter Deficiency: Creatine Analysis (Urine)

Elevated creatine/creatinine ratios in urine are suggestive of creatine transporter deficiency.

Creatine Transporter Deficiency: SLC6A8 Sequencing

SLC6A8 sequencing is a molecular test used to identify variants in the gene associated with Creatine Transporter Deficiency.

Crouzon with Acanthosis Nigricans: FGFR3 Targeted Analysis

FGFR3 targeted analysis is a molecular test used to identify common variants in the gene associated with Crouzon syndrome with acanthosis nigricans.

Cystic Fibrosis: CFTR Sequencing

CFTR sequencing is a molecular test used to identify variants in the gene associated with Cystic Fibrosis.

Cystic Fibrosis: CFTR Sequencing,CFTR sequencing is a molecular test used to identify variants in the gene associated with Cystic Fibrosis.,81223,28 days,,,$1,500 ,Cystic fibrosis is a common autosomal recessive disorder that affects many functions of the body such as respiration, endocrine function, and reproduction. Although great strides in treatment have increased the length and quality of life for CF patients, it is nearly always fatal by the fourth decade of life. Sweat chloride testing remains the gold standard for diagnosis of CF, however DNA analysis is indicated not only for CF patients but also for their extended families. In addition to providing information about the specific mutations that cause CF, molecular testing allows rapid detection of cystic fibrosis carriers and can determine if the patient has a pancreatic sufficient or insufficient type of the disease. This information plays a large role in clinical management of the affected individual. Over 2000 variants have been reported in the CFTR gene. The carrier rates of the disorder are 1/25 Caucasians, 1/60 African-Americans, 1/46 Hispanics, 1/90 Asians, and 1/29 in the Ashkenazi Jewish population.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing, Over 98% of patients with cystic fibrosis have at least one causative sequence variant in CFTR.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known or there are clinical features identified via ultrasound suggestive of a diagnosis in the fetus. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Comprehensive Pulmonary NGS Panel,Cystic Fibrosis: CFTR Targeted Mutation Analysis,CytoScan Xon Microarray: Single Gene Analysis,Primary Ciliary Dyskinesia & Cystic Fibrosis NGS Panel,,,,,,,,,,,,,,,,,

Cystic Fibrosis: CFTR Targeted Mutation Analysis

CFTR targeted analysis is a molecular test used to identify known variants in the gene associated with Cystic Fibrosis.

Cystic Fibrosis: CFTR Targeted Mutation Analysis,CFTR targeted analysis is a molecular test used to identify known variants in the gene associated with Cystic Fibrosis.B130,81221,4 weeks,,,$350 ,Cystic fibrosis is a common autosomal recessive disorder that affects many functions of the body such as respiration, endocrine function, and reproduction. Although great strides in treatment have increased the length and quality of life for CF patients, it is nearly always fatal by the fourth decade of life. Sweat chloride testing remains the gold standard for diagnosis of CF, however DNA analysis is indicated not only for CF patients but also for their extended families. In addition to providing information about the specific mutations that cause CF, molecular testing allows rapid detection of cystic fibrosis carriers and can determine if the patient has a pancreatic sufficient or insufficient type of the disease. This information plays a large role in clinical management of the affected individual. Over 2000 variants have been reported in the CFTR gene. The carrier rates of the disorder are 1/25 Caucasians, 1/60 African-Americans, 1/46 Hispanics, 1/90 Asians, and 1/29 in the Ashkenazi Jewish population.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,,Over 98% of patients with cystic fibrosis have at least one causative sequence variant in CFTR.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Cystic Fibrosis: CFTR Sequencing,,,,,,,,,,,,,,,,,,,,

CytoScan Xon Microarray: 2-10 Genes

CytoScan Xon Microarray: 2-10 Genes,The CytoScanTM Xon microarray is a powerful application with substantially increased coverage of disease-associated genes. The Applied Biosystems platform includes the following features: 6.85 million probes empirically selected for whole-genome coverage including: • 6.5 million copy number probes • 300,000 SNP probes for LOH/AOH analysis as well as duo/trio assessment and sample tracking • 95% sensitivity for the detection of exon-level CNVs in Level 1 genes • Total number of genes with coverage: 25,980 • Full coverage: 21,844 • Partial coverage: 4,136 • Exome genes for medical research (including cancer genes): 7,003 • Exon-level CNV detection with an average of 15 probes per call,Varies by genes; contact the lab,26 days,,,$1,200 ,Level 1 – 7003 genes •Genes with the highest level of evidence for clinical relevance – developmental delay, epilepsy, ASD, XLID, metabolic disorders, hereditary cancers, OMIM morbid genes Level 2 – 3813 genes •ClinVar genes not covered in level 1 Level 3 – 5817 genes •Other OMIM genes Level 4 – 9347 genes •Other RefSeq, UCSC, and Ensembl genes ,•This platform may detect small single or multiple exon deletions/duplications that are missed by a whole genome array. •Specific suspected disorder for the levels shown above where sequencing did not identify a mutation, or only identified one mutation for an autosomal recessive disorder. •This array also complements all of the GGC Next Generation Sequencing Panels •Whole genome analysis on the Xon array platform is not currently available. ,,,5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Additional specimen types include: saliva, extracted DNA, tissue, chorionic villus sampling, and amniotic fluid. Follow collection and transport guidelines specific for each tissue type. Studies requested should be indicated at the time of sample submission. Prenatal testing will be considered on a case-by-case basis as the lab would like to ensure there is an appropriate indication before accepting a prenatal specimen for testing. See prenatal testing information below for additional information. ,Will vary depending on sample type: Blood: Specimen should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day. Amniotic Fluid and CVS: Specimen should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day. Solid Tissue (such as skin biopsy, products of conception, or fetal tissue): Specimen should be kept at room temperature if it will be transported immediately. If specimen is not being immediately transported to the laboratory, it may be refrigerated; do not freeze. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day.,Considered on a case-by-case basis. These indications may include the following: abnormal ultrasound findings; abnormal NIPT result; family history with a known/identified genetic etiology; heterozygous sequence variant in a recessive gene that matches the prenatal phenotype with no second alteration identified. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for most prenatal testing. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/Test-finder-forms/GGC-Cytogenetic-Requisition.pdf,CytoScan Xon Microarray: Single Gene Analysis,CytoScan Xon Microarray: More than 10 Genes,,,,,,,,,,,,,,,,,,,

CytoScan Xon Microarray: Single Gene Analysis

CytoScan Xon Microarray: Single Gene Analysis,The CytoScanTM Xon microarray is a powerful application with substantially increased coverage of disease-associated genes. The Applied Biosystems platform includes the following features: 6.85 million probes empirically selected for whole-genome coverage including: • 6.5 million copy number probes • 300,000 SNP probes for LOH/AOH analysis as well as duo/trio assessment and sample tracking • 95% sensitivity for the detection of exon-level CNVs in Level 1 genes • Total number of genes with coverage: 25,980 • Full coverage: 21,844 • Partial coverage: 4,136 • Exome genes for medical research (including cancer genes): 7,003 • Exon-level CNV detection with an average of 15 probes per call,Varies by gene; contact the lab,26 days,,,$700 ,Level 1 – 7003 genes •Genes with the highest level of evidence for clinical relevance – developmental delay, epilepsy, ASD, XLID, metabolic disorders, hereditary cancers, OMIM morbid genes Level 2 – 3813 genes •ClinVar genes not covered in level 1 Level 3 – 5817 genes •Other OMIM genes Level 4 – 9347 genes •Other RefSeq, UCSC, and Ensembl genes ,•This platform may detect small single or multiple exon deletions/duplications that are missed by a whole genome array. •Specific suspected disorder for the levels shown above where sequencing did not identify a mutation, or only identified one mutation for an autosomal recessive disorder. •This array also complements all of the GGC Next Generation Sequencing Panels •Whole genome analysis on the Xon array platform is not currently available. ,,,5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Additional specimen types include: saliva, extracted DNA, tissue, chorionic villus sampling, and amniotic fluid. Follow collection and transport guidelines specific for each tissue type. Studies requested should be indicated at the time of sample submission. Prenatal testing will be considered on a case-by-case basis as the lab would like to ensure there is an appropriate indication before accepting a prenatal specimen for testing. See prenatal testing information below for additional information. ,Will vary depending on sample type: Blood: Specimen should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day. Amniotic Fluid and CVS: Specimen should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day. Solid Tissue (such as skin biopsy, products of conception, or fetal tissue): Specimen should be kept at room temperature if it will be transported immediately. If specimen is not being immediately transported to the laboratory, it may be refrigerated; do not freeze. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day.,Considered on a case-by-case basis. These indications may include the following: abnormal ultrasound findings; abnormal NIPT result; family history with a known/identified genetic etiology; heterozygous sequence variant in a recessive gene that matches the prenatal phenotype with no second alteration identified. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for most prenatal testing. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/Test-finder-forms/GGC-Cytogenetic-Requisition.pdf,CytoScan Xon Microarray: 2-10 Genes,CytoScan Xon Microarray: More than 10 Genes,,,,,,,,,,,,,,,,,,,

DiGeorge/VCF: (22q11.2) FISH Analysis

FISH analysis for DiGeorge/Velocardiofacial (VCF) syndrome is a cytogenetic test used to identify deletions or duplications in chromosome region 22q11.2. FISH is also utilized to confirm microdeletions identified during high resolution chromosome analysis.

DiGeorge/VCF: (22q11.2) FISH Analysis,FISH analysis for DiGeorge/Velocardiofacial (VCF) syndrome is a cytogenetic test used to identify deletions or duplications in chromosome region 22q11.2. FISH is also utilized to confirm microdeletions identified during high resolution chromosome analysis.,88275, 88273, 88271, 88291,4 weeks,,22q11.2,$584 ,,Fluorescence in situ hybridization is a molecular cytogenetic technique in which fluorescently labeled DNA probes are hybridized to metaphase spreads or interphase nuclei. Applications include identification of structurally abnormal chromosomes, including identification of marker chromosomes, detection of very small deletions (microdeletions), and rapid detection of Down syndrome and other numerical chromosome abnormalities; and the rapid detection of sex chromosomes and the SRY gene. FISH should be used in conjunction with G-banded chromosome analysis. FISH is performed upon request when a specific numerical or structural abnormality or microdeletion is suspected. FISH is also utilized to confirm microdeletions identified during high resolution chromosome analysis and to aid in identification of abnormal chromosomes.,,,FISH can be performed on any specimen that can be cultured for chromosome analysis. This includes blood in a green top (sodium heparin) tube, tissue, amniotic fluid, and chorionic villus sampling (CVS). Follow collection and transport guidelines specific for each tissue type. Studies requested should be indicated at the time of sample submission. Prenatal testing will be considered on a case-by-case basis as the lab would like to ensure there is an appropriate indication before accepting a prenatal specimen for testing. Appropriate indications include abnormal ultrasound findings, abnormal NIPT result, and/or family history with a known/identified genetic etiology. Contact the laboratory prior to sending a prenatal specimen to discuss your case with a lab genetic counselor. ,Will vary depending on sample type: Blood: Specimen should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day. Amniotic Fluid and CVS: Specimen should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day. Solid Tissue(such as skin biopsy, products of conception, or fetal tissue): Specimen should be kept at room temperature if it will be transported immediately. If specimen is not being immediately transported to the laboratory, it may be refrigerated; do not freeze. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day.,Considered on a case-by-case basis. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for most prenatal testing. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/Test-finder-forms/GGC-Cytogenetic-Requisition.pdf,Whole-Genome SNP Microarray: Cytoscan Dx (FDA Cleared) Microarray,Whole-Genome SNP Microarray: Cytoscan HD Microarray,,,,,,,,,,,,,,,,,,,

Disorders of Sexual Development: FISH Panel (includes SRY/Xcen & X/Y dual assay probes)

FISH analysis for Disorders of Sexual Development is a cytogenetic test used to identify deletions or duplications in the centromeric regions of the X and Y chromosomes as well as SRY. This test is intended for patients with ambiguous genitalia or suspected sex reversal, and it can detect varying degrees of mosaicism.

Disorders of Sexual Development: FISH Panel (includes SRY/Xcen & X/Y dual assay probes),FISH analysis for Disorders of Sexual Development is a cytogenetic test used to identify deletions or duplications in the centromeric regions of the X and Y chromosomes as well as SRY. This test is intended for patients with ambiguous genitalia or suspected sex reversal, and it can detect varying degrees of mosaicism.,88275 x2, 88271 x3, 88291 ,4 weeks,,,$934 ,,Fluorescence in situ hybridization is a molecular cytogenetic technique in which fluorescently labeled DNA probes are hybridized to metaphase spreads or interphase nuclei. Applications include identification of structurally abnormal chromosomes, including identification of marker chromosomes, detection of very small deletions (microdeletions), and rapid detection of Down syndrome and other numerical chromosome abnormalities; and the rapid detection of sex chromosomes and the SRY gene. FISH should be used in conjunction with G-banded chromosome analysis. FISH is performed upon request when a specific numerical or structural abnormality or microdeletion is suspected. FISH is also utilized to confirm microdeletions identified during high resolution chromosome analysis and to aid in identification of abnormal chromosomes.,,,FISH can be performed on any specimen that can be cultured for chromosome analysis. This includes blood in a green top (sodium heparin) tube, tissue, amniotic fluid, and chorionic villus sampling (CVS). Follow collection and transport guidelines specific for each tissue type. Studies requested should be indicated at the time of sample submission. Prenatal testing will be considered on a case-by-case basis as the lab would like to ensure there is an appropriate indication before accepting a prenatal specimen for testing. Appropriate indications include abnormal ultrasound findings, abnormal NIPT result, and/or family history with a known/identified genetic etiology. Contact the laboratory prior to sending a prenatal specimen to discuss your case with a lab genetic counselor. ,Will vary depending on sample type: Blood: Specimen should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day. Amniotic Fluid and CVS: Specimen should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day. Solid Tissue(such as skin biopsy, products of conception, or fetal tissue): Specimen should be kept at room temperature if it will be transported immediately. If specimen is not being immediately transported to the laboratory, it may be refrigerated; do not freeze. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day.,Considered on a case-by-case basis. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for most prenatal testing. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/Test-finder-forms/GGC-Cytogenetic-Requisition.pdf,Whole-Genome SNP Microarray: Cytoscan HD Microarray,,,,,,,,,,,,,,,,,,,,

Duchenne/Becker Muscular Dystrophy: DMD Deletion/Duplication MLPA

Molecular testing for Duchenne and Becker muscular dystrophy involves multiple ligation-dependent probe amplification (MLPA) analysis that can detect up to 98% of all deletions and duplications in the DMD gene in patients and females that carry the mutation.

Duchenne/Becker Muscular Dystrophy: DMD Deletion/Duplication MLPA,Molecular testing for Duchenne and Becker muscular dystrophy involves multiple ligation-dependent probe amplification (MLPA) analysis that can detect up to 98% of all deletions and duplications in the DMD gene in patients and females that carry the mutation.,81161,2 weeks,,,$500 ,Both Duchenne muscular dystrophy and the milder Becker muscular dystrophy are due to mutations in the dystrophin gene located on the X chromosome. The characteristic features of these disorders include pseudohypertrophy of the calf muscle, myofiber degeneration, myopathic EMG changes, and dramatic elevations of serum creatine kinase. Approximately two-thirds of mutations in the dystrophin gene are due to deletions and duplications. The majority of the remaining dystrophin defects result from point mutations within the gene.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,multiplex ligation-dependent probe amplification (MLPA),Testing for Duchenne and Becker muscular dystrophy involves multiple ligation-dependent probe amplification (MLPA) analysis that can detect up to 98% of all deletions and duplications in muscular dystrophy in patients and females that carry the mutation. Approximately 75% of patients with DMD and 95% of individuals with BMD will have a deletion or duplication.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,,,,,,,,,,,,,,,,,,,,,

Epilepsy/Seizure NGS Panel

This panel of 165 genes is intended for patients with a diagnosis of epilepsy or seizures and is performed by next generation sequencing.

Epilepsy/Seizure NGS Panel,This panel of 165 genes is intended for patients with a diagnosis of epilepsy or seizures and is performed by Next Generation Sequencing (NGS). This molecular test is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis. ,81419,8 weeks,,,$3,500 ,Epilepsy is a common disorder with a significant portion of cases having some degree of genetic contribution. This includes multifactorial, polygenic, chromosomal, copy number variants, and single gene disorders. This panel provides a cost effective and comprehensive strategy to evaluate for single gene causes of seizure disorders. Syndromic and non-syndromic forms of epilepsy are included in this panel. Identifying the underlying etiology and genetic cause of epilepsy may influence or directly impact medical management. For example, some medications are contraindicated when particular gene mutations are present.,,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,ARX-Related Spectrum of X-Linked Intellectual Disability (XLID): ARX Sequencing,CASK-Related X-Linked Intellectual Disability (XLID): CASK Sequencing,FLNA-Related Disorders: FLNA Sequencing,Rett Syndrome: MECP2 Sequencing,Borjeson-Forssman-Lehmann Syndrome: PHF6 Sequencing,POLG1-Related Disorders: POLG1 Sequencing,Angelman Syndrome: UBE3A Sequencing,CytoScan Xon Microarray: 2-10 Genes,QUICK Analysis,,,,,,,,,,,,

Fabry Disease: Alpha-galactosidase Enzyme Analysis

This biochemical analysis of Alpha-galactosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Fabry Disease. In addition, it can be used to clarify molecular findings, to follow up abnormal newborn screening results, and to monitor patients undergoing treatment.

Fabry Disease: Alpha-galactosidase Enzyme Analysis,This biochemical test is a quantitative measurement of alpha-galactosidase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Fabry disease. Demonstration of deficient alpha-galactosidase enzyme activity is considered the gold standard to confirm a diagnosis of Fabry disease. In addition, this assay can be used to clarify molecular findings in the GLA gene, to follow up abnormal newborn screening results, and to monitor patients undergoing treatment.,82657,2 weeks,Alpha-galactosidase,,$200 ,Fabry disease is a lysosomal storage disorder in which absent or reduced production of alpha-galactosidase A leads to the systemic accumulation of globotriaoslyceramide. Total absence of enzyme production results in the more severe, classic form of Fabry disease, while reduced production of alpha-galactosidase A typically often involves milder symptoms that appear later in life. Episodic pain, angiokeratosis, and hypohydrosis are frequently seen in patients with Fabry disease as well as corneal clouding and hearing loss. Gastrointestinal issues and breathing problems are common, and complications including cardiac abnormalities, kidney disease, and strokes can be life-threatening. Although Fabry disease is an X-linked disorder that primarily affects males, carrier females may become symptomatic. This condition occurs in approximately 1 in 55,000 males, and the development of enzyme replacement therapy has greatly improved the prognosis for many patients.,This test can be used to confirm a suspected Fabry disease diagnosis.,4-methylumbelliferyl substrate.,,Enzyme activity can be measured in plasma, leukocytes, cultured fibroblasts, or dried blood spots. For plasma or leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube, or spin down a whole blood sample, pull off the plasma, and freeze. For dried blood spot collection, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions. ,Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory the next day. If plasma has been separated and frozen, send frozen via overnight shipping, preferably on dry ice. Cultured fibroblasts should be sent overnight at room temperature. For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples can be mailed at ambient temperature.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Fabry Disease: GLA Sequencing,Non-Immune Hydrops NGS Panel,Hypertrophic Cardiomyopathy NGS Panel,Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease Enzyme Panel (DBS),Lysosomal Storage Disease NGS Panel,Neurological Enzyme Panel,Comprehensive Cardiac NGS Panel,,,,,,,,,,,,,

Fabry Disease: GLA Sequencing

GLA sequencing is a molecular test used to identify variants in the gene associated with Fabry Disease.

Fabry Disease: GLA Sequencing,GLA sequencing is a molecular test used to identify variants in the gene associated with Fabry Disease.,81405,3 weeks,,,$1,000 ,Fabry disease is a lysosomal storage disorder in which absent or reduced production of alpha-galactosidase A leads to the systemic accumulation of globotriaoslyceramide. Total absence of enzyme production results in the more severe, classic form of Fabry disease, while reduced production of alpha-galactosidase A typically often involves milder symptoms that appear later in life. Episodic pain, angiokeratosis, and hypohydrosis are frequently seen in patients with Fabry disease as well as corneal clouding and hearing loss. Gastrointestinal issues and breathing problems are common, and complications including cardiac abnormalities, kidney disease, and strokes can be life-threatening. Although Fabry disease is an X-linked disorder that primarily affects males, carrier females may become symptomatic. This condition occurs in approximately 1 in 55,000 males, and the development of enzyme replacement therapy has greatly improved the prognosis for many patients.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Fabry Disease: Alpha-galactosidase Enzyme Analysis,,,,,,,,,,,,,,,,,,,,

Factor V Leiden Thrombophilia: F5 Targeted Analysis

F5 targeted analysis is a molecular test used to identify the common R506Q/p.Arg534Gln variant in the gene associated with Factor V Leiden thrombophilia.

FGFR2-Related Disorders: FGFR2 Sequencing

FGFR2 sequencing is a molecular test used to identify variants in the gene associated with FGFR2-Related craniosynostosis syndromes.

FGFR2-Related Disorders: FGFR2 Sequencing,FGFR2 sequencing is a molecular test used to identify variants in the gene associated with FGFR2-Related craniosynostosis syndromes.,81479,6 weeks,,,$1,200 ,Craniosynostosis is a common feature among these disorders. Pfeiffer syndrome may also include broad and deviated great toes and thumbs and partial syndactyly. Apert syndrome may involve syndactyly, hearing loss, hyperhidrosis and occasionally varying degrees of intellectual disability. Crouzon syndrome includes normal intellect with dental problems and possible hearing loss. Jackson-Weiss syndrome includes short, wide deviated great toes and foot syndactyly with normal hards and intellect. Beare Stevenson with cutis gyrata patients will have delayed development, acanthosis nigricans of the hands, feet and genital areas along with the cutis gyrata. Bent bone dysplasia is associated with craniosynostosis, prenatal teeth, bowing of the long bones, decreased mineralization of the calvarium, hypoplastic pubis and clavicles, and dysmorphic features. LADD syndrome is associated with abnormal tear secretion, ear structure changes and possible hearing loss, decreased saliva production and dental abnormalities, and hand malformations. Antley-Bixler syndrome (type 2) is associated with dysmorphic features including craniosynostosis, skeletal findings such as contractures, bowing, and increased risk of fractures, significant respiratory complications, atrial septal defect, and variable intellectual disability. Scaphocephaly, maxillary retrusion, and mental retardation is described as a distinct phenotype of scaphocephaly with mild intellectual disability, retrognathia, and hypertelorism.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,FGFR2-Related Disorders: FGFR2 Targeted Analysis,Craniosynostosis NGS Panel,,,,,,,,,,,,,,,,,,,

FGFR2-Related Disorders: FGFR2 Targeted Analysis

FGFR2 targeted analysis is a molecular test used to identify common variants in the gene associated with FGFR2-Related disorders including Apert syndrome, Crouzon syndrome, and Jackson-Weiss syndrome.

FGFR2-Related Disorders: FGFR2 Targeted Analysis,FGFR2 targeted analysis is a molecular test used to identify common variants in the gene associated with FGFR2-Related disorders including Apert syndrome, Crouzon syndrome, and Jackson-Weiss syndrome.,81404,2 weeks,,,$500 ,Craniosynostosis is a common feature among these disorders. Pfeiffer syndrome may also include broad and deviated great toes and thumbs and partial syndactyly. Apert syndrome may involve syndactyly, hearing loss, hyperhidrosis and occasionally varying degrees of intellectual disability. Crouzon syndrome includes normal intellect with dental problems and possible hearing loss. Jackson-Weiss syndrome includes short, wide deviated great toes and foot syndactyly with normal hards and intellect. Beare Stevenson with cutis gyrata patients will have delayed development, acanthosis nigricans of the hands, feet and genital areas along with the cutis gyrata. Bent bone dysplasia is associated with craniosynostosis, prenatal teeth, bowing of the long bones, decreased mineralization of the calvarium, hypoplastic pubis and clavicles, and dysmorphic features. LADD syndrome is associated with abnormal tear secretion, ear structure changes and possible hearing loss, decreased saliva production and dental abnormalities, and hand malformations. Antley-Bixler syndrome (type 2) is associated with dysmorphic features including craniosynostosis, skeletal findings such as contractures, bowing, and increased risk of fractures, significant respiratory complications, atrial septal defect, and variable intellectual disability. Scaphocephaly, maxillary retrusion, and mental retardation is described as a distinct phenotype of scaphocephaly with mild intellectual disability, retrognathia, and hypertelorism., Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known or there are clinical features identified via ultrasound suggestive of a diagnosis in the fetus. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,FGFR2-Related Disorders: FGFR2 Sequencing,Craniosynostosis NGS Panel,,,,,,,,,,,,,,,,,,,

Focused NGS – Single Gene

Any custom single gene analysis can be requested using an exome backbone.

Focused NGS – Single Gene,In order to best meet the needs of the clinical providers and patients we serve, our molecular laboratory offers custom testing options, or Focused Exomes, for sequencing of single genes and multi-gene panel requests. These customizable tests are Next Generation Sequencing (NGS) based assays utilizing our whole exome sequencing platform, the Agilent SureSelect Clinical Research Exome kit. Healthcare providers can select from one up to 15 genes for these focused exome requests. While a focused exome can include more than 15 genes, these are considered on a case by case basis. We recommend you contact the laboratory and discuss the case and gene(s) of interest with one of our laboratory genetic counselors or directors prior to submitting the test order. Focused exomes may have low coverage for certain exons, genes, or regions included in the request given the nature of an exome platform. These details can be reviewed and discussed on an individual case basis. Similar to whole exome sequencing and our established NGS panels, all variants are confirmed with Sanger sequencing before being reported out. We hope that the option of a focused exome will provide flexible and efficient diagnostic tests for those patients that don’t have other appropriate testing options. ,Varies by gene; contact the lab,5 weeks,,,$1,500 ,,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,,5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA is also accepted for this test.,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Prenatal diagnosis can also be requested when there are clincial features and ultrasound findings suggestive of a diagnosis. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Focused NGS – Panel,,,,,,,,,,,,,,,,,,,,

Focused NGS – Panel

A custom panel of up to 60 genes can be requested using the exome backbone.

Focused NGS – Panel,In order to best meet the needs of the clinical providers and patients we serve, our molecular laboratory offers custom testing options, or Focused Exomes, for sequencing of single genes and multi-gene panel requests. These customizable tests are next generation sequencing based assays utilizing our whole exome sequencing platform, the Agilent SureSelect Clinical Research Exome kit. Healthcare providers can select from one up to 60 genes for these focused exome requests. While a focused exome can include more than 60 genes, these are considered on a case by case basis. We recommend you contact the laboratory and discuss the case and gene(s) of interest with one of our laboratory genetic counselors or directors prior to submitting the test order. Focused exomes may have low coverage for certain exons, genes, or regions included in the request given the nature of an exome platform. These details can be reviewed and discussed on an individual case basis. Similar to whole exome sequencing and our established Next Generation Sequencing (NGS) panels, all variants are confirmed with Sanger sequencing before being reported out. We hope that the option of a focused exome will provide flexible and efficient diagnostic tests for those patients that don’t have other appropriate testing options. ,Varies by genes; contact the lab,8 weeks,,,2-5 genes: $2,000; 6-15 genes: $2,500; 16-60 genes: $3,000,,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Prenatal diagnosis can also be requested when there are clincial features and ultrasound findings suggestive of a diagnosis. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Focused NGS – Single Gene,,,,,,,,,,,,,,,,,,,,

Fragile X Syndrome: FMR1 Trinucleotide Repeat Analysis

FMR1 trinucleotide repeat analysis is a molecular test used to identify expanded CGG repeat size in the gene associated with Fragile X syndrome.

Fragile X Syndrome: FMR1 Trinucleotide Repeat Analysis,FMR1 trinucleotide repeat analysis is a molecular test used to identify expanded CGG repeat size in the gene associated with Fragile X syndrome.,81243,7-10 days for samples with <45 repeats OR 3 weeks for samples with > 45 repeats,,,$350 ,Fragile X Syndrome is the most common form of inherited intellectual disability. Approximately 1/1250 males and 1/2500 females are affected by the condition. Some population studies have shown the carrier frequency to be as high as 1/250 individuals. The American College of Medical Genetics policy statement on Fragile X testing recommends consideration of testing for males or females with intellectual disability, developmental delay or autism, those with a family history of Fragile X syndrome or unexplained intellectual disability. Additionally, prenatal testing should be offered to known carrier females. Trinucleotide repeat analysis is the standard for Fragile X diagnosis. Patients with the above characteristics who had a previously normal cytogenetic Fragile X results should also be considered for trinucleotide repeat analysis.,,Trinucleotide Repeat,More than 99% of cases are due to the expansion of a polymorphic (CGG) repeat within the FMR1 gene. Fragile X testing at the Greenwood Genetic Center involves two independent molecular approaches. PCR analysis is performed initially to determine allele sizes. Samples with allele sizes of less than 55 repeats are reported out in approximately 7-10 days. If an allele size of 55 repeats or greater is detected, the sample will be reflexed to methylation-sensitive PCR to confirm the presence of an expansion and determine methylation status. Patients positive for a full mutation will be reported as having greater than 200 CGG repeats.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,,,,,,,,,,,,,,,,,,,,,

Fucosidosis: Alpha-fucosidase Enzyme Analysis

This biochemical analysis of Alpha-fucosidase enzyme activity is intended for patients with a clinical suspicion of Fucosidosis or to clarify molecular findings in the FUCA1 gene.

Fucosidosis: Alpha-fucosidase Enzyme Analysis,This biochemical test is a quantitative measurement of alpha-fucosidase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Fucosidosis. Demonstration of deficient alpha-fucosidase enzyme activity is considered the gold standard to confirm a diagnosis of Fucosidosis. In addition, this assay can be used to clarify molecular findings in the FUCA1 gene.,82657,2 weeks,Alpha-fucosidase,,$200 ,Fucosidosis is a lysosomal storage disease that is primarily characterized by coarse facial features, dysostosis multiplex, angiokeratomas, neurological symptoms and progressive psychomotor deterioration. Patients may also have hepatosplenomegaly and hazy corneas. There are two major sub types with type 1 having a more severe phenotype beginning around 6 months of age and death in the first decade. The milder type 2 is associated with longer survival and a slower progression of neurological symptoms and psychomotor delays.,This test can be used to confirm a suspected Fucosidosis diagnosis, Quantitative analysis will be performed using liquid chromatography-tandem mass spectrometry.,,Enzyme activity can be measured in leukocytes, cultured fibroblasts, or dried blood spots. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. For dried blood spot collection, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions. ,Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory within 24 hours of specimen collection. Cultured fibroblasts should be sent overnight at room temperature. For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples can be mailed at ambient temperature.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Fucosidosis: FUCA1 Sequencing,Oligosaccharidoses Enzyme Panel,Oligosaccharide Urine Analysis,Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease Enzyme Panel (DBS),Lysosomal Storage Disease NGS Panel,,,,,,,,,,,,,,,

Fucosidosis: FUCA1 Sequencing

FUCA1 sequencing is a molecular test used to identify variants in the gene associated with Fucosidosis.

Galactosemia: Galactose-1-Phosphate Analysis

The measurement of galactose-1-phosphate is performed to confirm a new diagnosis of galactosemia and to periodically monitor the effectiveness of treatment in patients known to have the disease.

Galactosemia: Galactose-1-Phosphate Analysis,Galactosemia is an inborn error of carbohydrate metabolism caused by the deficiency of galactose-1-phosphate uridyl transferase (GALT), which performs the second enzymatic step in the conversion of galactose to glucose-1-phosphate. As a result of the enzyme deficiency, excess galactose is excreted in the urine and the substrate for GALT, galactose-1-phosphate, accumulates throughout the body.,84378,10 days,,,$200 ,Manifestations of the galactosemia appear within days of the initiation of milk feedings, and include vomiting, jaundice and failure to thrive. If left untreated for a prolonged period of time, patients will develop hepatomegaly, cataracts and intellectual disability. Speech delay and premature ovarian failure are also observed in many galactosemia patients, even in those who are diagnosed early and put on treatment.,Galactosemia is typically detected very early because of newborn screening programs, which measure GALT enzyme activity in dried blood spots. The measurement of galactose-1-phosphate is performed to confirm a new diagnosis of galactosemia and to periodically monitor the effectiveness of treatment in patients known to have the disease.,Galactose-1-phosphate (Gal-1-P) is measured by first converting endogenous galactose-1-phosphate to galactose using alkaline phosphatase, and then converting galactose to galactonolactone using ?-galactose dehydrogenase. During the second enzyme reaction, NAD is reduced to NADH, the accumulation of which can be measured using its absorbance at 340 nm. Results are reported in mg Gal-1-P / dL RBC.,,Galactose-1-phosphate measurements must be performed in washed red blood cells. Collect 5 ml blood in a sodium heparin, green top tube. The laboratory will isolate red blood cells for use in the assay if a whole blood sample is sent. , Send via courier or 24-hour delivery at room temperature (not frozen). Red blood cells must be isolated within 24 hours of sample collection.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Galactosemia: GALT Sequencing,,,,,,,,,,,,,,,,,,,,

Galactosemia: GALT Sequencing

GALT sequencing is a molecular test used to identify variants in the gene associated with Galactosemia.

Galactosemia: GALT Sequencing,GALT sequencing is a molecular test used to identify variants in the gene associated with Galactosemia.,81406,10 days,,,$1,000 ,Galactosemia is an autosomal recessive inborn error of carbohydrate metabolism caused by the deficiency of galactose-1-phosphate uridyl transferase (GALT), which performs the second enzymatic step in the conversion of galactose to glucose-1-phosphate. As a result of the enzyme deficiency, excess galactose is excreted in the urine and the substrate for GALT, galactose-1-phosphate, accumulates throughout the body. Manifestations of the disease appear within days of the initiation of milk feedings, and include vomiting, jaundice and failure to thrive. If left untreated for a prolonged period of time, patients will develop hepatomegaly, cataracts and intellectual disability. Speech delay and premature ovarian failure are also observed in many galactosemia patients, even in those who are diagnosed early and put on treatment. Galactosemia is typically detected very early because of newborn screening programs, which measure GALT enzyme activity in dried blood spots. Mutations in the GALT gene are responsible for the classic form of galactosemia (G/G). This sequencing analysis can help identify the disease causing mutations in patients.,,Sanger Sequencing, A mutation in GALT will be indentified in approximately 99% of patients with classic galacossemia.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Galactosemia: Galactose-1-Phosphate Analysis,CytoScan Xon Microarray: Single Gene Analysis,,,,,,,,,,,,,,,,,,,

Galactosialidosis: CTSA Sequencing

CTSA sequencing is a molecular test used to identify variants in the gene associated with Galactosialidosis.

Galactosialidosis: CTSA Sequencing,CTSA sequencing is a molecular test used to identify variants in the gene associated with Galactosialidosis.,81479,3 weeks,,,$1,200 ,Galactosialidosis is a lysosomal storage disease associated with a deficiency the lysosomal protective protein cathepsin A (PPCA), which aggregates with beta-galactosidase and sialidase enzymes to protect them from degradation. Therefore a deficiency of PCCA results in a secondary deficiency of these enzymes. There are 3 distinct subtypes, early infantile, late infantile, and juvenile/adult. Clinical features common to late infantile and juvenile/adult subtypes include psychomotor delay and deterioration, hepatosplenomegaly, dysostosis multiplex, cherry-red macular spots and corneal clouding, heart defects, and renal involvement. Neurological symptoms are common to the juvenile/adult form, but rare in the late infantile form. The early infantile form is associated with hydrops fetalis, visceromegaly, skeletal dysplasia, and early death.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Sialidosis: Alpha-Neuraminidase (Sialidase) Enzyme Analysis,,Non-Immune Hydrops NGS Panel,Hydrops Enzyme Panel,,,,,,,,,,,,,,,,,

Gaucher Disease: Beta-glucosidase Enzyme Analysis

This biochemical analysis of Beta-glucosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Gaucher Disease. In addition, it can be used to clarify molecular findings, to follow up abnormal newborn screening results, and to monitor patients undergoing treatment.

Gaucher Disease: Beta-glucosidase Enzyme Analysis,This biochemical test is a quantitative measurement of beta-glucosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Gaucher disease. Demonstration of deficient beta-glucosidase enzyme activity is considered the gold standard to confirm a diagnosis of Gaucher disease. In addition, this assay can be used to clarify molecular findings in the GBA gene, to follow up abnormal newborn screening results, and to monitor patients undergoing treatment.,82963,2 weeks,Beta-glucosidase,,$200 ,Gaucher disease, a lysosomal storage disorder, can present with a wide spectrum of severity ranging from a perinatal lethal phenotype to asymptomatic. There are three primary types with two additional subtypes, all categorized by differences in the clinical presentation of the patient. Hepatosplenomegaly, pulmonary disease, and cytopenia are also common for most types of Gaucher disease. Patients with Gaucher disease type 1 have varying degrees and types of bone disease as the primary feature, but do not have any central nervous system involvement. Gaucher disease types 2 and 3 present with primary neurologic disease. Type 2 and 3 are distinguished based on age of onset and disease progression. Patients with type 2 typically have an earlier onset before age 2, rapid disease progression, and early death. Type 3 is characterized by a slower disease course with patients living into adulthood. Neurologic findings for types 2 & 3 include bulbar signs, pyramidal signs, oculomotor apraxia, seizures, as well as dementia and ataxia in later disease stages. The perinatal lethal form may present as nonimmune hydrops fetalis or with pyramidal neurologic signs and ichthyosiform skin changes. The cardiovascular form is characterized by primarily by calcification of mitral and aortic values with other minor findings.,Biomarker analysis of chitotriosidase can be used to monitor disease progression for affected individuals including those receiving enzyme replacement therapy.,4-methylumbelliferyl substrate,,Enzyme activity can be measured in leukocytes, cultured fibroblasts, or dried blood spots. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. For dried blood spot collection, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions. ,Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory within 24 hours of specimen collection. Cultured fibroblasts should be sent overnight at room temperature. For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples can be mailed at ambient temperature.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Gaucher Disease: GBA Sequencing,Chitotriosidase Enzyme Analysis,Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease Enzyme Panel (DBS),Lysosomal Storage Disease NGS Panel,,,,,,,,,,,,,,,,

Chitotriosidase Enzyme Analysis

Meaurement of chitotriosidase can be used to monitor disease progression for individuals with Gaucher disease including those receiving enzyme replacement therapy.

Chitotriosidase Enzyme Analysis,Biomarker analysis of chitotriosidase can be used to monitor disease progression for individuals with the Lysosomal Storage Disorder (LSD), Gaucher disease, including those receiving enzyme replacement therapy.,82657,10 days,Chitotriosidase,,$200 ,Gaucher disease, a lysosomal storage disorder (LSD), can present with a wide spectrum of severity ranging from a perinatal lethal phenotype to asymptomatic. There are three primary types with two additional sub-types, all categorized by differences in the clinical presentation of the patient. Hepatosplenomegaly, pulmonary disease, and cytopenia are also common for most types of Gaucher disease. Patients with Gaucher disease type 1 have varying degrees and types of bone disease as the primary feature, but do not have any central nervous system involvement. Gaucher disease types 2 and 3 present with primary neurologic disease. Type 2 and 3 are distinguished based on age of onset and disease progression. Patients with type 2 typically have an earlier onset before age 2, rapid disease progression, and early death. Type 3 is characterized by a slower disease course with patients living into adulthood. Neurologic findings for types 2 & 3 include bulbar signs, pyramidal signs, oculomotor apraxia, seizures, as well as dementia and ataxia in later disease stages. The perinatal lethal form may present as nonimmune hydrops fetalis or with pyramidal neurologic signs and ichthyosiform skin changes. The cardiovascular form is characterized by primarily by calcification of mitral and aortic values with other minor findings.,,4-methylumbelliferyl substrate,,Chitotriosidase enzyme activity is measured in plasma. Please send 5-7 ml of whole blood in a green top (sodium heparin) tube, or spin down a whole blood sample, pull off the plasma, and freeze.,Whole blood samples should be shipped at ambient temperature and must arrive at the laboratory within 24 hours of blood draw. If plasma has been separated and frozen, send frozen via overnight shipping, preferrably on dry ice. ,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Gaucher Disease: Beta-glucosidase Enzyme Analysis,Gaucher Disease: GBA Sequencing,,,,,,,,,,,,,,,,,,,

Gaucher Disease: GBA Sequencing

GBA sequencing is a molecular test used to identify variants in the gene associated with Gaucher Disease.

Gaucher Disease: GBA Sequencing,GBA sequencing is a molecular test used to identify variants in the gene associated with Gaucher Disease.,81479,3 weeks,,,$1,000 ,Gaucher disease, a lysosomal storage disorder, can present with a wide spectrum of severity ranging from a perinatal lethal phenotype to asymptomatic. There are three primary types with two additional subtypes, all categorized by differences in the clinical presentation of the patient. Hepatosplenomegaly, pulmonary disease, and cytopenia are also common for most types of Gaucher disease. Patients with Gaucher disease type 1 have varying degrees and types of bone disease as the primary feature, but do not have any central nervous system involvement. Gaucher disease types 2 and 3 present with primary neurologic disease. Type 2 and 3 are distinguished based on age of onset and disease progression. Patients with type 2 typically have an earlier onset before age 2, rapid disease progression, and early death. Type 3 is characterized by a slower disease course with patients living into adulthood. Neurologic findings for types 2 & 3 include bulbar signs, pyramidal signs, oculomotor apraxia, seizures, as well as dementia and ataxia in later disease stages. The perinatal lethal form may present as nonimmune hydrops fetalis or with pyramidal neurologic signs and ichthyosiform skin changes. The cardiovascular form is characterized by primarily by calcification of mitral and aortic values with other minor findings.,Biomarker analysis of chitotriosidase can be used to monitor disease progression for affected individuals including those receiving enzyme replacement therapy.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Gaucher Disease: Beta-glucosidase Enzyme Analysis,Chitotriosidase Enzyme Analysis,Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease Enzyme Panel (DBS),Lysosomal Storage Disease NGS Panel,,,,,,,,,,,,,,,,

Glutaric Acidemia Type I: GCDH Sequencing

GCDH sequencing is a molecular test used to identify variants in the gene associated with Glutaric Acidemia, Type I.

Glutaric Acidemia Type I: GCDH Sequencing,GCDH sequencing is a molecular test used to identify variants in the gene associated with Glutaric Acidemia, Type I.,81406,2 weeks,,,$1,000 ,Glutaric acidemia, type 1 (GA1) is an autosomal recessive inborn error of lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of glutaryl-CoA dehydrogenase (GCDH). Patients are often identified via newborn screening. However, some patients are low excretors and can exhibit normal or mildly elevated biochemical analytes making a definitive diagnosis of GA1 difficult without molecular analysis. GA1 is a neurodegenerative disorder with loss of neurons in the basal ganglia. Clinical features vary, but often include macrocephaly, gait abnormalities, hypotonia, spasms, rigidity and seizures. Retinal or subdural hemorrhages can also occur. Other than possible macrocephaly, patients appear normal at birth. Clinical features are typically preceded by an acute encephalopathic illness with fever before five years of age.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,Sequencing of the gene will detect mutations in 95% of individuals with glutaric acidemia type I.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,,Tryptophan Analysis,,,,,,,,,,,,,,,,,,,

Hearing Loss NGS Panel

This panel of 91 genes is intended for patients with a diagnosis of Hearing Loss and is performed by Next Generation Sequencing (NGS).

Hearing Loss NGS Panel,This panel of 91 genes is intended for patients with a diagnosis of Hearing Loss and is performed by Next Generation Sequencing (NGS). This molecular test is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,81430,8 weeks,,,$3,500 ,Hearing loss composes a very heterogeneous group of diagnoses and is one of the most common findings at birth, affecting about 1 in every 500 newborns with the prevalence increasing with age, (Morton & Nance 2006). Deafness is often categorized and described based on 3 key components: conductive versus sensorineural, syndromic or nonsyndromic, and prelingual or postlingual. While some hearing loss can be environmental, multifactorial, more than 50% of prelingual deafness is attributed to genetic causes. With a large proportion of deafness due genetics and significant genetic heterogeneity, it is important to have an efficient and comprehensive testing option for patients. Identifying the underlying molecular etiology of the hearing loss has important implications for the patients and their families. A specific diagnosis can provide prognostic insights and guide treatment of the hearing loss as well as facilitate monitoring for additional associated health concerns. A clear diagnosis also prevents further, unnecessary testing and gives valuable recurrence risk information. List of Genes and Associated Clinical Phenotypes,,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Aminoglycoside-Induced Hearing Loss: MT-RNR1 Targeted Analysis,Connexin 26: GJB2 Sequencing,Connexin 26: GJB2 Targeted Mutation Analysis,,CytoScan Xon Microarray: 2-10 Genes,QUICK Analysis,,,,,,,,,,,,,,,

Hereditary Spastic Paraplegia NGS Panel

This panel of 79 genes is intended for patients with a diagnosis or clinical suspicion of Hereditary Spastic Paraplegia.

Hereditary Spastic Paraplegia NGS Panel,This panel of 79 genes is intended for patients with a diagnosis or clinical suspicion of Hereditary Spastic Paraplegia and is performed by Next Generation Sequencing (NGS). This molecular test is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,81479,8 weeks,,,$3,500 ,This panel consists of 79 genes associated with hereditary spastic paraplegia, or HSP, which refers to a group of disorders associated with increased muscle tone, stiffness, and weakness in the lower extremities. In uncomplicated, also known as pure, spastic paraplegia, loss of sensation and overactive bladder may occur. Additional features including intellectual disability, gait abnormalities, seizures, dementia, and peripheral neuropathy, have been reported in cases that are considered to be complicated. The upper extremities are usually spared of symptoms. The prevalence of HSP is approximately 3 in 100,000, and an estimated 10% of patients have complicated HSP with additional clinical features. These conditions can be inherited in autosomal dominant, autosomal recessive, and X-linked dominant and recessive patterns, and each type exhibits variable clinical presentation, age of onset, degree of severity, and disease progression. Lifespan is typically unaffected. List of Genes and Conditions,,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,CytoScan Xon Microarray: 2-10 Genes,QUICK Analysis,,,,,,,,,,,,,,,,,,,

Hermansky-Pudlak Syndrome & Pulmonary Fibrosis NGS Panel

This panel of 40 genes is intended for patients with a diagnosis or clinical suspicion of Hermansky-Pudlak Syndrome & Pulmonary Fibrosis and is performed by Next Generation Sequencing (NGS).

Hermansky-Pudlak Syndrome & Pulmonary Fibrosis NGS Panel,This panel of 40 genes is intended for patients with a diagnosis or clinical suspicion of Hermansky-Pudlak Syndrome & Pulmonary Fibrosis and is performed by Next Generation Sequencing (NGS). This molecular test is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,81479,8 weeks,,,$3,000 ,Primary features include hypopigmentation of the hair, skin, and eyes, nystagmus, and associated visual impairment. In addition to the pigmentation findings, individuals with Hermanksy-Pudlak may also have prolonged bleeding times and easy bruising, kidney failure, and bowel disorders. Pulmonary fibrosis caused by scarring of lung tissue may also be present, and symptoms include shortness of breath and a dry cough leading to death from respiratory failure within a few years without effective treatment.,,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. Novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Comprehensive Pulmonary NGS Panel,CytoScan Xon Microarray: Single Gene Analysis,CytoScan Xon Microarray: More than 10 Genes,QUICK Analysis,,,,,,,,,,,,,,,,,

Homocysteine Analysis

Elevations in plasma homocysteine levels may be associated with homocystinuria, cobalamin disorders, and vitamin B12 or folic acid deficiencies. Measurement of plasma homocysteine can be used to monitor patients undergoing treatment for Certain cobalamin disorders (CblC, CblD and CblE), which are characterized by hypotonia, failure to thrive, developmental delay and megaloblastic anemia and result in elevated homocysteine levels.

Hydrops Enzyme Panel

This panel of four 4 enzymes includes alpha-neuraminidase-sialidase (sialidosis), beta-galactosidase (GM1 gangliosidosis, galactosialidosis), beta-glucosidase (Gaucher disease), and
beta-glucuronidase (Sly syndrome, MPS VII). This biochemical analysis is intended for patients with clinical evidence of Hydrops of unknown etiology, and each of these enzymes can be ordered individually.

Non-Immune Hydrops NGS Panel

This panel of 87 genes is intended for patients with a diagnosis or clinical suspicion of non-immune hydrops and is performed by Next Generation Sequencing (NGS).

Non-Immune Hydrops NGS Panel,This panel of 87 genes is intended for patients with a diagnosis or clinical suspicion of non-immune hydrops and is performed by Next Generation Sequencing (NGS). This molecular test is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,81479,8 weeks,,,$3,500 ,Non-immune hydrops fetalis can result from numerous etiologies. Inborn errors of metabolism, specifically some lysosomal storage disorders, have been shown to be a cause of some cases of non-immune hydrops. Genes associated with RASopathies, certain skeletal dysplasias, and lymphedema disorders are included on this expanded 87-gene sequencing panel. ,,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,Prenatal and postnatal samples are accepted for this test. 3-5 ml of blood in an EDTA (purple top) tube, solid tissue, extracted DNA, and saliva are accepted sample types for postnatal testing. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. Cultured amniocytes or cultured chorionic villus sample (CVS) are recommended sample types for prenatal testing. Contact the lab prior to sending a prenatal specimen. ,The specimen should be kept at room temperature and delivered via overnight shipping. Do not freeze the specimen. ,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Prenatal diagnosis can also be requested when there are clinical features and ultrasound findings suggestive of a diagnosis. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Galactosialidosis: CTSA Sequencing,Sly Syndrome (MPS VII): GUSB Sequencing,Niemann-Pick Disease A/B: SMPD1 Sequencing,RASopathy NGS Panel,PTPN11-Related Disorders: PTPN11 Sequencing,Hurler Syndrome (MPS I): IDUA Sequencing,,Mucolipidosis II & III Alpha/Beta: GNPTAB Sequencing,Sialidosis: NEU1 Sequencing,Thanatophoric Dysplasia Type I: FGFR3 Targeted Analysis,Thanatophoric Dysplasia Type II: FGFR3 Targeted Analysis,Gaucher Disease: GBA Sequencing,Fabry Disease: GLA Sequencing,Kabuki Syndrome: KMT2D Sequencing,Peroxisomal Biogenesis Disorders NGS Panel,Congenital Disorder of Glycosylation 1a: PMM2 Sequencing,CytoScan Xon Microarray: 2-10 Genes,QUICK Analysis,,,

Hypertrophic Cardiomyopathy NGS Panel

This panel of 24 genes is intended for patients with a diagnosis or clinical suspicion of Hypertrophic Cardiomyopathy and is performed by Next Generation Sequencing (NGS).

Hypertrophic Cardiomyopathy NGS Panel,This panel of 24 genes is intended for patients with a diagnosis or clinical suspicion of Hypertrophic Cardiomyopathy and is performed by Next Generation Sequencing (NGS). It is a molecular test useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis. This analysis is a subpanel of the NGS Cardiac Panel.,81439,8 weeks,,,$3,000 ,Familial hypertrophic cardiomyopathy (HCM) is associated with the thickening of the cardiac muscle between chambers of the heart. This thickening leads to reduced or inefficient blood flow and can either cause a heart murmur or other symptoms of the condition including chest pain, dyspnea, palpitations, and syncope. Individuals with HCM can also present with sudden death, and this condition has been associated with sudden death in young individuals and athletes. Typically, onset of HCM occurs in adolescence, but it can develop at any age. HCM is primarily inherited in an autosomal dominant manner, but autosomal recessive and X-linked forms occur as well. This panel consists of 24 genes that are associated with this condition. ,,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Comprehensive Cardiac NGS Panel,CytoScan Xon Microarray: 2-10 Genes,Lung Adenocarcinoma : PTEN Mutation Analysis,Lung Adenocarcinoma Panel,,,,,,,,,,,,,,,,,

Hypochondroplasia: FGFR3 Targeted Analysis

FGFR3 Targeted analysis is a molecular test used to identify variants in the gene associated with Hypochondroplasia.

Hypochondroplasia: FGFR3 Targeted Analysis,FGFR3 testing is not offered as a panel. You must specify which condition is clinically suspected. Testing for each condition must be ordered individually and will be billed separately. If you request more than one test, please specify the order in which they should be run or if they should be run simultaneously.,81403,2 weeks,,,$350 ,Hypochondroplasia also causes short stature with disproportionately short limbs, short hands and feet and macrocephaly. It is similar in phenotype to achondroplasia, though milder.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known or there are clinical features identified via ultrasound suggestive of a diagnosis in the fetus. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Achondroplasia: FGFR3 Targeted Analysis,Thanatophoric Dysplasia Type I: FGFR3 Targeted Analysis,Lung Adenocarcinoma : PTEN Mutation Analysis,Lung Adenocarcinoma Panel,Non-Syndromic Craniosynostosis (also Muenke): FGFR3 Targeted Analysis,Skeletal Dysplasia NGS Panel,,,,,,,,,,,,,,,

Kabuki Syndrome: KMT2D Sequencing

KMT2D sequencing is a molecular test used to identify variants in the gene associated with Kabuki syndrome.

Kabuki Syndrome: KMT2D Sequencing,KMT2D sequencing is a molecular test used to identify variants in the gene associated with Kabuki syndrome.,81479,6 weeks,,,$1,500 ,Kabuki syndrome is characterized by distinctive facial features, mild to moderate intellectual disability, postnatal growth deficiency, finger tip pads, and skeletal abnormalities, such as brachydactyly and vertebral defects. Characteristic facial features include long palpebral fissures with eversion of the lower lateral eyelid, depressed nasal tip, and high-arched eyebrows. Other features associated with Kabuki syndrome include cleft palate, congenital heart defects, and early breast development in females. This condition is inherited in an autosomal dominant manner.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,Mutations in the KMT2D gene may account for more than 60% of patients with a clinical diagnosis of Kabuki syndrome.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known or there are clinical features identified via ultrasound suggestive of a diagnosis in the fetus. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Hydrops Enzyme Panel,Lysosomal Storage Disease NGS Panel,Lung Adenocarcinoma : PTEN Mutation Analysis,Lung Adenocarcinoma Panel,,,,,,,,,,,,,,,,,

Kabuki Syndrome 2: KDM6A Sequencing

KDM6A sequencing is a molecular test used to identify variants in the gene associated with Kabuki Syndrome 2.

Kabuki Syndrome 2: KDM6A Sequencing,KDM6A sequencing is a molecular test used to identify variants in the gene associated with Kabuki Syndrome 2.,81479,6 weeks,,,$1,500 ,Kabuki syndrome is characterized by distinctive facial features, mild to moderate intellectual disability, postnatal growth deficiency, finger tip pads, and skeletal abnormalities, such as brachydactyly and vertebral defects. Characteristic facial features include long palpebral fissures with eversion of the lower lateral eyelid, depressed nasal tip, and high-arched eyebrows. Other features associated with Kabuki syndrome include cleft palate, congenital heart defects, and early breast development in females. KDM6A-related Kabuki syndrome is inherited in an X-linked, dominant pattern.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,Mutations in the KDM6A gene may account for around 10% of patients with a clinical diagnosis of Kabuki syndrome who are negative for sequence variants in KMT2D.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Kabuki Syndrome: KMT2D Sequencing,,Lung Adenocarcinoma : EGFR Mutation Analysis,Lung Adenocarcinoma Panel,,,,,,,,,,,,,,,,,

Krabbe Disease: Galactocerebrosidase Enzyme Analysis

This biochemical analysis of Galactocerebrosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Krabbe disease.

Krabbe Disease: Galactocerebrosidase Enzyme Analysis,This biochemical test is a quantitative measurement of galactocerebrosidase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Krabbe disease. Demonstration of deficient galactocerebrosidase enzyme activity is considered the gold standard to confirm a diagnosis of Krabbe disease.,82657,2 Weeks,Galactocerebrosidase,,$200 ,Krabbe disease leads to the accumulation of galactosylceramide specifically in brain white matter, causing a neurological phenotype. Patients with the severe, infantile form of Krabbe disease will typically present by 3-6 months of age with rapidly progressive neurodegeneration, muscle rigidity, seizures, irritability, vomiting, and blindness and/or deafness. Approximately 10-15% of cases exhibit a milder, late onset clinical phenotype, with patients presenting with general weakness or stiffness, ataxia, vision loss, and some intellectual regression.,,4-methylumbelliferyl substrate,,Krabbe disease enzyme analysis is performed on dried blood spots. A minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions. A whole blood sample (3-5 ml) in a green top, sodium heparin tube can also be submitted for this test. The laboratory will create a DBS card from the tube of blood when the specimen arrives. ,For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Whole blood samples should be sent at ambient temperature and must arrive to the laboratory within 24 hours of specimen collection.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Krabbe Disease: GALC Sequencing,Lysosomal Storage Disease Enzyme Panel (DBS),Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease NGS Panel,Neurological Enzyme Panel,,,,,,,,,,,,,,,,

Krabbe Disease: GALC Sequencing

GALC sequencing is a molecular test used to identify variants in the gene associated with Krabbe Disease.

Krabbe Disease: GALC Sequencing,GALC sequencing is a molecular test used to identify variants in the gene associated with Krabbe Disease.,81406,3 weeks,,,$1,000 ,Krabbe disease leads to the accumulation of galactosylceramide specifically in brain white matter, causing a neurological phenotype. Patients with the severe, infantile form of Krabbe disease will typically present by 3-6 months of age with rapidly progressive neurodegeneration, muscle rigidity, seizures, irritability, vomiting, and blindness and/or deafness. Approximately 10-15% of cases exhibit a milder, late onset clinical phenotype, with patients presenting with general weakness or stiffness, ataxia, vision loss, and some intellectual regression.,The enzyme assay for galactocerebrosidase activity is considered diagnostic for Krabbe Disease. However, the enzyme assay is not a reliable method for carrier detection. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,This analysis includes full sequencing of the coding region of the GALC gene as well as allele-specific PCR to detect the common 30 kb deletion in this gene. These two methods combined are expected to detect close to 100% of the abnormal alleles in individuals with a biochemical diagnosis.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Krabbe Disease: Galactocerebrosidase Enzyme Analysis,Lysosomal Storage Disease NGS Panel,Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease Enzyme Panel (DBS),,,,,,,,,,,,,,,,,

Leber Congenital Amaurosis NGS Panel

This sequencing panel of 24 genes intended for patients with a diagnosis or clinical suspicion of Leber Congenital Amaurosis and is performed by Next Generation Sequencing (NGS).

Leber Congenital Amaurosis NGS Panel,This sequencing panel of 24 genes intended for patients with a diagnosis or clinical suspicion of Leber Congenital Amaurosis and is performed by Next Generation Sequencing (NGS).,81479,8 weeks,,,$3,000 ,Leber Congenital Amaurosis, or LCA, is characterized by severe visual impairment usually present at birth or within the first 6 months of life. Nystagmus and photophobia are also common findings.,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,CytoScan Xon Microarray: 2-10 Genes,QUICK Analysis,,,,,,,,,,,,,,,,,,,

Long QT Syndrome NGS Panel

This panel of 18 genes intended for patients with a diagnosis or clinical suspicion of Long QT Syndrome and is performed by Next Generation Sequencing (NGS).

Long QT Syndrome NGS Panel,This panel of 18 genes intended for patients with a diagnosis or clinical suspicion of Long QT Syndrome and is performed by Next Generation Sequencing (NGS).,81413,8 weeks,,,$3,000 ,Long QT syndrome refers to a category of cardiac arrhythmias involving a prolonged QT interval that can be detected by EKG. Affected individuals may experience fainting episodes and ventricular tachycardia (specifically torsade de pointes), and in some cases, sudden death may occur. Exercise, stress, and loud noises have been implicated as precursers to cardiac events in certain types of Long QT syndrome. Hearing loss is an additional feature in individuals with Jervell and Lange-Nielsen syndrome. Long QT syndrome is usually inherited in an autosomal dominant pattern with reduced penetrance, but the risk of significant episodes may decrease after early adulthood. This panel consists of 18 genes that are associated with this condition.,,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Comprehensive Cardiac NGS Panel,CytoScan Xon Microarray: 2-10 Genes,QUICK Analysis,,,,,,,,,,,,,,,,,,

Lysosomal Storage Disease Enzyme Panel

This panel of 13 enzymes is intended for patients with a diagnosis or clinical suspicion of Lysosomal Storage Disease This biochemical analysis is intended for patients with clinical evidence of lysosomal storage of unknown etiology, and each of these enzymes can be ordered individually.

Lysosomal Storage Disease Enzyme Panel,This panel includes quantification of the activity of 13 enzymes. ,82657 x5,3 weeks,Alpha-mannosidase; Aspartylglucosaminidase; Beta-mannosidase; Alpha-galactosidase; Alpha-fucosidase; Beta-glucosidase; Beta-galactosidase; Alpha-iduronidase; Galactocerebrosidase; Arylsulfatase A; Acid sphingomyelinase; N-acetyl-alpha-galactosaminidase; Beta-hexosaminidase,,$1,000 ,Lysosomal storage disorders are a broad group of diseases composed of a variety of sub-groups of disorders, such as the mucopolysaccharidoses, the glycoproteinoses, and the sphingolipidoses. A lysosomal storage disease can present in a number of different ways. Infants or children may have growth failure, developmental regression, corneal or lens clouding, hepato- and/or splenomegaly, coarsening facial features and skeletal abnormalities. Some disorders are more likely to have a neurological presentation or present in adults. While a diverse group, different storage diseases may have similar clinical features, thus it may be necessary to measure a number of different enzyme activities prior to finding the one deficient in a particular patient.,Enzyme testing may be ordered as follow-up to abnormal urine screening or as a first tier testing. Enzyme analysis and demonstrating deficient activity is considered the gold-standard in diagnosing lysosomal storage disorders.,,,The lysosomal enzyme panel requires 7-10 ml of whole blood collected in a sodium heparin (green-top) tube. Please note that Krabbe and Niemann Pick A/B enzyme analysis are performed in dried blood spots that are prepared in our lab from the whole blood sample.,Whole blood should be sent over overnight at ambient temperature. Do not freeze whole blood. Samples for enzyme analysis must arrive at the lab the next day. Cultured fibroblasts can be sent overnight at room temperature. ,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Aspartylglucosaminuria: Aspartyglucosaminidase Enzyme Analysis,Alpha-mannosidosis: Alpha-mannosidase Enzyme Analysis,Beta-mannosidosis: Beta-mannosidase Enzyme Analysis,Fabry Disease: Alpha-galactosidase Enzyme Analysis,Fucosidosis: Alpha-fucosidase Enzyme Analysis,Gaucher Disease: Beta-glucosidase Enzyme Analysis,,Krabbe Disease: Galactocerebrosidase Enzyme Analysis,Metachromatic Leukodystrophy: Arylsulfatase A Enzyme Analysis,Niemann-Pick Disease A/B: Acid Sphingomyelinase Enzyme Analysis,Schindler/Kanzaki Disease: Alpha-N-Acetylgalactosaminidase Enzyme Analysis,Tay-Sachs/Sandhoff Disease: Beta-hexosaminidase Enzyme Analysis,Lysosomal Storage Disease Enzyme Panel (DBS),Lysosomal Storage Disease NGS Panel,Oligosaccharidoses Enzyme Panel,Oligosaccharide Urine Analysis,Neurological Enzyme Panel,,,,

Lysosomal Storage Disease Enzyme Panel (DBS)

This panel of 12 enzymes is intended for patients with a diagnosis or clinical suspicion of Lysosomal Storage Disease.

Lysosomal Storage Disease Enzyme Panel (DBS),This panel includes quantification of the activity of 12 enzymes and is intended for patients with a diagnosis or clinical suspicion of a Lysosomal Storage Disease (LSD). Enzyme analysis and demonstrating deficient activity is considered the gold-standard in diagnosing lysosomal storage disorders. Each of these enzymes can be ordered individually.,82657 x4,3 weeks,Alpha-mannosidase; Aspartyglucosaminidase; Beta-mannosidase; Alpha-galactosidase; Alpha-fucosidase; Beta-glucosidase; Beta-galactosidase; Galactocerebrosidase; Acid sphingomyelinase; Alpha-1,4-glucosidase; N-acetyl-alpha-galactosaminidase; Tripeptidyl-peptidase 1,,$800 ,Lysosomal storage disorders are a broad group of diseases composed of a variety of sub-groups of disorders, such as the mucopolysaccharidoses, the glycoproteinoses, and the sphingolipidoses. A lysosomal storage disease can present in a number of different ways. Infants or children may have growth failure, developmental regression, corneal or lens clouding, hepato- and/or splenomegaly, coarsening facial features and skeletal abnormalities. Some disorders are more likely to have a neurological presentation or present in adults. While a diverse group, different storage diseases may have similar clinical features, thus it may be necessary to measure a number of different enzyme activities prior to finding the one deficient in a particular patient.,Enzyme testing may be ordered as follow-up to abnormal urine screening or as a first tier testing. ,,,To ensure sufficient quantity for testing, please fill five circles on the card if possible. Cards are available upon request, and each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions.,When sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Sample should be sent at ambient temperature.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Alpha-mannosidosis: Alpha-mannosidase Enzyme Analysis,Aspartylglucosaminuria: Aspartyglucosaminidase Enzyme Analysis,Beta-mannosidosis: Beta-mannosidase Enzyme Analysis,Fucosidosis: Alpha-fucosidase Enzyme Analysis,Gaucher Disease: Beta-glucosidase Enzyme Analysis,,Krabbe Disease: Galactocerebrosidase Enzyme Analysis,Niemann-Pick Disease A/B: Acid Sphingomyelinase Enzyme Analysis,Neuronal Ceroid Lipofuscinosis 2 (CLN2): Tripeptidyl Peptidase 1 Enzyme Analysis,Pompe Disease, Glycogen Storage Disease Type II: Alpha-glucosidase Enzyme Analysis,Schindler/Kanzaki Disease: Alpha-N-Acetylgalactosaminidase Enzyme Analysis,Fabry Disease: Alpha-galactosidase Enzyme Analysis,Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease NGS Panel,Oligosaccharide Urine Analysis,,,,,,

Lysosomal Storage Disease NGS Panel

This panel of 75 genes intended for patients with a diagnosis or clinical suspicion of Lysosomal Storage Disease and is performed by Next Generation Sequencing (NGS).

Lysosomal Storage Disease NGS Panel,This panel of 75 genes intended for patients with a diagnosis or clinical suspicion of a Lysosomal Storage Disease (LSD) and is performed by Next Generation Sequencing (NGS). ,81479,8 weeks,,,$3,500 ,This comprehensive panel consists of 75 genes related to lysosomal storage diseases and conditions with similar clinical phenotypes. Common clinical features for these disorders include: Microcephaly/Macrocephaly Hepatomegaly Short stature Joint Stiffness Deafness Abnormal skeletal survey Coarse features Macroglossia Abnormal MRI Sleep Apnea Seizures Behavioral problems Ocular Anomalies Intellectual disability or Developmental Delay Hypotonia Spasticity/dystonia Ataxia/poor coordination,This panel may be particularly useful -for patients with a suspected storage disease in whom other enzyme testing and single gene analysis has been normal -for patients with a non-specific “storage-like” presentation who do not fit the typical phenotype for a specific disorder For patients with a specific suspected storage disease, enzyme analysis or individual gene sequencing should be considered first.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Prenatal diagnosis can also be requested when there are clincial features and ultrasound findings suggestive of a diagnosis. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease Enzyme Panel,CytoScan Xon Microarray: 2-10 Genes,QUICK Analysis,,,,,,,,,,,,,,,,,

Macular Degeneration NGS Panel

This panel of 24 genes intended for patients with a diagnosis or clinical suspicion of Macular Degeneration and is performed by Next Generation Sequencing (NGS).

Macular Degeneration NGS Panel,This panel of 24 genes intended for patients with a diagnosis or clinical suspicion of Macular Degeneration and is performed by Next Generation Sequencing (NGS).,81479,8 weeks,,,$3,000 ,This panel consists of 24 genes that have been associated with macular degeneration and associated conditions. As common with many of the heritable retinal diseases, macular degeneration encompasses a broad group of disorders with variable clinical presentation and autosomal recessive, autosomal dominant, as well as X-linked forms described.,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,CytoScan Xon Microarray: 2-10 Genes,QUICK Analysis,,,,,,,,,,,,,,,,,,,

Marfan Syndrome: FBN1 Sequencing

FBN1 sequencing is a molecular test used to identify variants in the gene associated with Marfan syndrome.

Marfan Syndrome: FBN1 Sequencing,FBN1 sequencing is a molecular test used to identify variants in the gene associated with Marfan syndrome .,81408,6 weeks,,,$1,500 ,Marfan syndrome is an autosomal dominant, highly variable disorder of connective tissue. Features of Marfan syndrome can include: pectus excavatum, reduced upper-to-lower segment ratio, wrist/thumb signs, scoliosis, joint hypermobility, high arched palate, ectopia lentis, dilatation or dissection of the ascending aorta, mitral valve prolapse, pneumothorax, and striae atrophicae. Specific diagnostic criteria for a clinical diagnosis of Marfan syndrome have been described., Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing, Sequencing of the FBN1 gene will detect mutations in approximately 70-93% of individuals with a clinical diagnosis of Marfan syndrome.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Connective Tissue Disorders NGS Panel,CytoScan Xon Microarray: Single Gene Analysis,,,,,,,,,,,,,,,,,,,

Maternal Cell Contamination (MCC)

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: ACADM Sequencing

ACADM sequencing is a molecular test used to identify variants in the gene associated with Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: ACADM Sequencing,ACADM sequencing is a molecular test used to identify variants in the gene associated with Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.,81479,2 weeks,,,$1,000.00 ,Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common defect in mitochondrial beta-oxidation in humans. It is estimated that in the Caucasian population 1 in 50 individuals is a carrier and 1 in 10,000 live births will be affected. The disease shows an autosomal recessive pattern of inheritance and is characterized by a wide spectrum of clinical features including developmental delay, behavioral problems, fasting intolerance, and vomiting. Patients demonstrate hypoglycemia and medium chain dicarboxylic aciduria. If untreated the disease can lead to coma and premature death., Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing, Sequencing of the ACADM gene should detect 95-100% of mutations in affected individuals.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Acylcarnitine Profile,,,,,,,,,,,,,,,,,,,,

Metachromatic Leukodystrophy: ARSA Sequencing

ARSA sequencing is a molecular test used to identify variants in the gene associated with Metachromatic Leukodystrophy.

Metachromatic Leukodystrophy: ARSA Sequencing,ARSA sequencing is a molecular test used to identify variants in the gene associated with Metachromatic Leukodystrophy.,81405,3 weeks,,,$1,000 ,Metachromatic leukodystrophy is an autosomal recessive condition caused by a deficiency of arylsulfatase A, an enzyme crucial to the breakdown of sulfatides in the body. The accumulation of sulfatides causes demyelination of nerves. Progressive signs of leukodystrophy include a decline in intellectual abilities and motor skills to the extent that affected individuals lose the ability to walk, speak, see, and hear. This condition can present as late-infantile, juvenile or adult forms, and it is more common in people of Israeli or Navajo descent.,Metachromatic leukodystrophy should be considered in any individual with progressive neurological dysfunction and MRI evidence of a leukodystrophy. Diagnosis is typically initially made by enzyme testing. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Metachromatic Leukodystrophy: Arylsulfatase A Enzyme Analysis,,,,,,,,,,,,,,,,,,,,

Metachromatic Leukodystrophy: Arylsulfatase A Enzyme Analysis

This biochemical analysis of Arylsulfatase A enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Metachromatic Leukodystrophy.

Mitochondrial Depletion NGS Panel

This panel of 23 genes intended for patients with a diagnosis or clinical suspicion of Mitochondrial Depletion and is performed by next generation sequencing.

Mitochondrial Depletion NGS Panel,This panel of 23 genes intended for patients with a diagnosis or clinical suspicion of Mitochondrial Depletion and is performed by next generation sequencing.,81479,8 weeks,,,$3,000 ,This panel consists of 23 nuclear-encoded genes that have been associated with mitochondrial DNA depletion disorders. These nuclear genes are responsible for the maintenance of mitochondrial DNA, so dysfunction of this process can lead to multisystem involvement and tend to be progressive. Variants of these disorders include encephalomyopathic, myopathic, hepatocerebral, and neurogastrointestinal types. Common symptoms may include the following: muscle weakness/hypotonia; motor and developmental delays in early-onset cases; digestive problems such as IBS, diarrhea, and constipation or other dysmotility; neurological issues such as migraines, seizures, and strokes; dysautonomia; kidney disease, cardiomyopathy; liver disease; vision problems, especially ophthalmoplegia, and hearing loss; and fatigue. While the majority of nuclear mitochondrial disorders are inherited in an autosomal recessive pattern, some conditions demonstrate autosomal dominant inheritance. These conditions can occur in infancy or early childhood and typically have a poor prognosis. However, tremendous clinical variability exists among these disorders. List of Genes and Conditions,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Focused NGS – Panel,QUICK Analysis,,,,,,,,,,,,,,,,,,,

Mucolipidosis II & III Alpha/Beta: GNPTAB Sequencing

GNPTAB sequencing is a molecular test used to identify variants in the gene associated with Mucolipidosis II & III Alpha/Beta.

Mucolipidosis II & III Alpha/Beta: GNPTAB Sequencing,GNPTAB sequencing is a molecular test used to identify variants in the gene associated with Mucolipidosis II & III Alpha/Beta.,81479,6 weeks,,,$1,500 ,Mucolipidosis II (ML II), also known as I-Cell disease, and Mucolipidosis IIIA (ML IIIA), also known as Pseudo-Hurler Polydystrophy, are lysosomal storage disorders caused by a deficiency of N-acetylglucosamine-1-phosphotransferase (NAPT). ML II is associated with a more severe course including growth failure and failure to thrive, severe developmental delay, coarse facial features, skeletal anomalies and frequent upper respiratory infections. ML II is often lethal in childhood. ML IIIA is associated with a similar, but milder course with a wider spectrum of features and severity. In ML II and ML IIIA, lysosomal hydrolase enzymes are not properly targeted to the lysosome. Therefore, the enzyme activity of multiple lysosomal hydrolases is increased in plasma and other body fluids., Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,Sequencing of the gene will detect mutations in >95% of individuals with MLII/IIIA. GNPTG sequencing can be requested separately or reflexed if GNPTAB sequencing is normal.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Mucolipidosis II/III Enzyme Panel (DBS),Mucolipidosis II/III Enzyme Panel (Plasma),Mucolipidosis III Gamma: GNPTG Sequencing,Oligosaccharide Urine Analysis,,,,,,,,,,,,,,,,,

Mucolipidosis II/III Enzyme Panel (DBS)

This test measures the enzyme activity of three hydrolases to make a diagnosis of mucolipidosis.

Mucolipidosis II/III Enzyme Panel (Plasma)

This test measures the enzyme activity of three hydrolases to make a diagnosis of mucolipidosis.

Mucolipidosis III Gamma: GNPTG Sequencing

GNPTG sequencing is a molecular test used to identify variants in the gene associated with Mucolipidosis III Gamma.

Mucolipidosis III Gamma: GNPTG Sequencing,GNPTG sequencing is a molecular test used to identify variants in the gene associated with Mucolipidosis III Gamma .,81479,6 weeks,,,$1,000 ,Mucolipidosis II (ML II), also known as I-Cell disease, and Mucolipidosis IIIA (ML IIIA), also known as Pseudo-Hurler Polydystrophy, are lysosomal storage disorders caused by a deficiency of N-acetylglucosamine-1-phosphotransferase (NAPT). ML II is associated with a more severe course including growth failure and failure to thrive, severe developmental delay, coarse facial features, skeletal anomalies and frequent upper respiratory infections. ML II is often lethal in childhood. ML IIIA is associated with a similar, but milder course with a wider spectrum of features and severity. In ML II and ML IIIA, lysosomal hydrolase enzymes are not properly targeted to the lysosome. Therefore, the enzyme activity of multiple lysosomal hydrolases is increased in plasma and other body fluids.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,Sequencing of the gene will detect mutations in >95% of individuals with MLII/IIIA. GNPTG sequencing can be requested separately or reflexed if GNPTAB sequencing is normal.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Mucolipidosis II/III Enzyme Panel (DBS),Mucolipidosis II/III Enzyme Panel (Plasma),Mucolipidosis II & III Alpha/Beta: GNPTAB Sequencing,Oligosaccharide Urine Analysis,,,,,,,,,,,,,,,,,

Mucopolysaccharidosis (MPS) Enzyme Panel (DBS)

This panel of 7 enzymes can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis (MPS). This biochemical analysis is intended for patients with clinical evidence of mucopolysaccharidosis, and each of these enzymes can be ordered individually.

Mucopolysaccharidosis (MPS) Enzyme Panel (DBS),This panel of 7 enzymes can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis (MPS). This biochemical analysis is intended for patients with clinical evidence of mucopolysaccharidosis, and each of these enzymes can also be ordered individually. Please note that this panel does not include analysis for Sanfilippo types A, C, or D.,82657 x4,3 weeks,alpha-iduronidase; Arylsulfatase B; beta-galactosidase; beta-glucuronidase; Iduronate-2-sulfatase; N-acetyl-?-glucosaminidase; N-acetyl galactosamine-6-sulfatase,,$800 ,The mucopolysaccharidoses are a group of inherited lysosomal storage disorders, each with a distinctive phenotype and a progressive course due to a specific enzyme deficiency. These enzymes are involved in the degradation of specific glycosaminoglycans. This test includes quantitative measurement of total glycosaminoglycans as well as quantitation of the individual GAG components, including heparan sulfate, dermatan sulfate, chondroitin sulfate, and keratan sulfate.,Glycosaminoglycans are typically elevated in the urine of affected patents. For patients with a suspected MPS diagnosis, measurement of glycosaminoglycans in urine can be a useful screening test.,The activity of 7 enzymes are measured from a dried blood spot. Beta-galactosidase is measured using a 4-methylumbelliferyl substrate. The other 6 enzymes are measured using a multiplexed assay via tandem mass spectrometry (LC-MS/MS).,,To ensure sufficient quantity for testing, please fill five circles on the card if possible. Cards are available upon request, and each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions. Sample Collection and Requirements DBS Collection Instruction Video,When sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Sample should be sent at ambient temperature.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),Hurler Syndrome (MPS I): Alpha-iduronidase Enzyme Analysis,Hunter Syndrome (MPS II): Iduronate-2-Sulfatase Enzyme Analysis,Sanfilippo Syndrome B (MPS IIIB): N-Acetyl-Alpha-Glucosaminidase Enzyme Analysis,Morquio Syndrome A (MPS IVA): N-Acetylgalactosamine-6-Sulfatase Enzyme Analysis,,Maroteaux-Lamy Syndrome (MPS VI): Arylsulfatase B Enzyme Analysis,Sly Syndrome (MPS VII): Beta-glucuronidase Enzyme Analysis,Hurler Syndrome (MPS I): IDUA Sequencing,,Hunter Syndrome (MPS II): IDS Deletion/Duplication MLPA,Sanfilippo Syndrome B (MPS IIIB): NAGLU Sequencing,Morquio Syndrome A (MPS IVA): GALNS Sequencing,,Maroteaux-Lamy Syndrome (MPS VI): ARSB Sequencing,Sly Syndrome (MPS VII): GUSB Sequencing,,,,

Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS)

This test includes quantitative measurement of total glycosaminoglycans (GAGs) as well as quantitation of the individual GAG components, including heparan sulfate, dermatan sulfate, chondroitin sulfate, and keratan sulfate. Glycosaminoglycans are typically elevated in the urine of affected patents. For patients with a suspected MPS diagnosis, measurement of glycosaminoglycans in urine serves as a useful screening test.

Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),This test includes quantitative analysis of total glycosaminoglycans (GAGs) and individual component GAGs including heparan sulfate, dermatan sulfate, chondroitin sulfate, and keratan sulfate.,83864 x3,14 days,,,$450 ,The mucopolysaccharidoses are a group of inherited lysosomal storage disorders, each with a distinctive phenotype and a progressive course due to a specific enzyme deficiency. These enzymes are involved in the degradation of specific glycosaminoglycans. This test includes quantitative measurement of total glycosaminoglycans as well as quantitation of the individual GAG components, including heparan sulfate, dermatan sulfate, chondroitin sulfate, and keratan sulfate.,Glycosaminoglycans are typically elevated in the urine of affected patents. For patients with a suspected MPS diagnosis, measurement of glycosaminoglycans in urine can be a useful screening test.,Quantitative analysis of total glycosaminoglycans (GAGs) is performed using a 1,9-dimethylene blue (DMB) colorimetric reaction that is measured by spectrophotometry at a wavelength of 656 nm. GAG measurements are reported relative to the creatinine concentration in the patient’s urine. Quantification of individual glycosaminoglycans -chondroitin sulfate (uCS), dermatan sulfate (uDS), heparan sulfate (uHS), and keratan sulfate (uKS)- is performed using liquid chromatography-tandem mass spectrometry.,,At least 3 ml of a random catch sample of urine is needed for the mucopolysaccharidosis urine analysis.,Urine samples should be frozen after collection. Samples must be sent frozen via overnight delivery or courier, preferably on dry ice.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel (DBS),Hurler/Hunter Syndrome (MPS I/II): Urine Monitoring (Total GAGs, DS, HS),Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, HS),Morquio Syndrome (MPS IV): Urine Monitoring (Total GAGs, KS, CS),Maroteaux-Lamy Syndrome (MPS VI): Urine Monitoring (Total GAGs, DS),Sly Syndrome (MPS VII): Urine Monitoring (Total GAGs, DS, CS),,,,,,,,,,,,,,

Hurler/Hunter Syndrome (MPS I/II): Urine Monitoring (Total GAGs, DS, HS)

This test includes quantitative total glycosaminoglycans as well as dermatan and heparan sulfate (uDS, uHS) component GAGs and can be used as a monitoring tool for patients with Hurler or Hunter syndrome (MPS I/II).

Hurler Syndrome (MPS I): Alpha-iduronidase Enzyme Analysis

This biochemical analysis of alpha-iduronidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis I (MPS I)/Hurler Syndrome.

Hurler Syndrome (MPS I): Alpha-iduronidase Enzyme Analysis,This biochemical test is a quantitative measurement of of alpha-iduronidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis I (MPS I)/Hurler Syndrome. Demonstration of deficient alpha-iduronidase enzyme activity is considered the gold standard to confirm a diagnosis of Mucopolysaccharidosis I (MPS I)/Hurler Syndrome.,82657,2 weeks ,Alpha-iduronidase ,,$200 ,Mucopolysaccharidosis type I (MPSI) is caused by deficient alpha-iduronidase enzyme activity, which results in an accumulation of the glycoamnioglycan heparan sulfate and dermatan sulfate in body tissues. MPS I is a multisystem progressive disorder demonstrating wide phenotypic variability with three different MPSI subtypes described (Hurler, Hurler-Scheie, and Scheie). Hurler syndrome is considered the more severe end of the phenotypic spectrum with patients generally diagnosed before 18 months of age while Hurler-Scheie and Scheie syndromes are usually used to describe the milder phenotypes. These less severe cases, also known as attenuated MPS I, will often present between 3 and 10 years of age. Clinical features of MPS I include coarse facial features, dysostosis multiplex, short stature, hirsutism, cloudy corneas, and hepatosplenomegaly, and cardiac comlications. Developmental delay and intellectual disability is more severe in those patients with Hurler syndrome and is a distinguishing feature between the subtypes of MPS I., This test can be used to confirm a suspected Hurler syndrome diagnosis,4-methylumbelliferyl substrate,,Enzyme activity can be measured in leukocytes, plasma, cultured fibroblasts, or dried blood spots. For leukocytes or plasma, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. Plasma can also be removed from spun down sample and sent frozen. For dried blood spot collection, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions., Whole blood should be sent over overnight at ambient temperature. Plamsa can be removed once the sample has been drawn and sent frozen on dry ice. Do not freeze whole blood. For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples can be mailed at ambient temperature.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Hurler Syndrome (MPS I): IDUA Sequencing,Hurler/Hunter Syndrome (MPS I/II): Urine Monitoring (Total GAGs, DS, HS),Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel (DBS),,,,,,,,,,,,,,,,,

Hurler Syndrome (MPS I): IDUA Sequencing

IDUA sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis I (MPS I), Hurler Syndrome.

Hurler Syndrome (MPS I): IDUA Sequencing,IDUA sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis I (MPS I), Hurler Syndrome.,81406,3 weeks,,,$1,000 ,Mucopolysaccharidosis type I (MPSI) is caused by deficient alpha-iduronidase enzyme activity, which results in an accumulation of the glycoamnioglycan heparan sulfate and dermatan sulfate in body tissues. MPS I is a multisystem progressive disorder demonstrating wide phenotypic variability with three different MPSI subtypes described (Hurler, Hurler-Scheie, and Scheie). Hurler syndrome is considered the more severe end of the phenotypic spectrum with patients generally diagnosed before 18 months of age while Hurler-Scheie and Scheie syndromes are usually used to describe the milder phenotypes. These less severe cases, also known as attenuated MPS I, will often present between 3 and 10 years of age. Clinical features of MPS I include coarse facial features, dysostosis multiplex, short stature, hirsutism, cloudy corneas, and hepatosplenomegaly, and cardiac comlications. Developmental delay and intellectual disability is more severe in those patients with Hurler syndrome and is a distinguishing feature between the subtypes of MPS I. Mucopolysaccharidosis type I (MPSI) is caused by deficient L-iduronidase enzyme activity, which results in an accumulation of the glycoamnioglycan heparan sulfate and dermatan sulfate in body tissues. MPS I is a multisystem progressive disorder demonstrating wide phenotypic variability with three different MPSI subtypes described (Hurler, Hurler-Scheie, and Scheie). Hurler syndrome is considered the more severe end of the phenotypic spectrum with patients generally diagnosed before 18 months of age while Hurler-Scheie and Scheie syndromes are usually used to describe the milder phenotypes. These less severe cases, also known as attenuated MPS I, will often present between 3 and 10 years of age. Clinical features of MPS I include coarse facial features, dysostosis multiplex, short stature, hirsutism, cloudy corneas, and hepatosplenomegaly, and cardiac comlications. Developmental delay and intellectual disability is more severe in those patients with Hurler syndrome and is a distinguishing feature between the subtypes of MPS I., Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,Sequencing of the gene will detect about 97% of abnormal alleles in individuals with a biochemical diagnosis.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Hurler Syndrome (MPS I): Alpha-iduronidase Enzyme Analysis,Hurler/Hunter Syndrome (MPS I/II): Urine Monitoring (Total GAGs, DS, HS),Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel (DBS),Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),,,,,,,,,,,,,,,,

Hunter Syndrome (MPS II): IDS Deletion/Duplication MLPA

IDS Deletion/Duplication (MLPA)is a molecular test used to diagnose Mucopolysaccharidosis II (MPS II), Hunter Syndrome.

Hunter Syndrome (MPS II): IDS Deletion/Duplication MLPA,IDS Deletion/Duplication (MLPA)is a molecular test used to diagnose Mucopolysaccharidosis II (MPS II), Hunter Syndrome.,81404,2 weeks,,,$500 ,Hunter syndrome is an X-linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. Features include coarse facial appearance, short stature, hepatosplenomegaly, intellectual disability and joint stiffness. Typically, the disorder is diagnosed by enzymatic assay, however, the determination of carrier status using enzyme assay has proved problematic.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,multiplex ligation-dependent probe amplification (MLPA),Sequencing of the gene will detect a mutation in 80-90% of individuals with Hunter syndrome. If no deleterious changes are identified, the laboratory will reflex to dosage studies via multiplex ligation-dependent probe amplification (MLPA) as well as checking for a specific inversion between IDS and IDS-2 at no additional cost.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Hunter Syndrome (MPS II): IDS Sequencing,Hunter Syndrome (MPS II): Iduronate-2-Sulfatase Enzyme Analysis,Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),Hurler/Hunter Syndrome (MPS I/II): Urine Monitoring (Total GAGs, DS, HS),Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel (DBS),,,,,,,,,,,,,,,

Hunter Syndrome (MPS II): IDS Sequencing

IDS sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis II (MPS II), Hunter Syndrome. This analysis also includes MLPA to identify copy number variants as well as analysis for the common inversion between IDS and IDS-2.

Hunter Syndrome (MPS II): IDS Sequencing,IDS sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis II (MPS II), Hunter Syndrome. This analysis also includes MLPA to identify copy number variants as well as analysis for the common inversion between IDS and IDS-2.,81405,3 weeks,,,$1,000 ,Hunter syndrome is an X-linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. Features include coarse facial appearance, short stature, hepatosplenomegaly, intellectual disability and joint stiffness. Typically, the disorder is diagnosed by enzymatic assay, however, the determination of carrier status using enzyme assay has proved problematic.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,Sequencing of the gene will detect a mutation in 80-90% of individuals with Hunter syndrome. If no deleterious changes are identified, the laboratory will reflex to dosage studies via multiplex ligation-dependent probe amplification (MLPA) as well as checking for a specific inversion between IDS and IDS-2 at no additional cost.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Hunter Syndrome (MPS II): Iduronate-2-Sulfatase Enzyme Analysis,Hunter Syndrome (MPS II): IDS Deletion/Duplication MLPA,Hurler/Hunter Syndrome (MPS I/II): Urine Monitoring (Total GAGs, DS, HS),Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),,,,,,,,,,,,,,,

Sanfilippo Syndrome (MPS III) Enzyme Panel

This panel of 4 enzymes is intended for patients with a clinical suspicion of Mucopolysaccharidosis III (MPS III), Sanfilippo Syndrome. This biochemical analysis is intended for patients with clinical evidence of Sanfilippo syndrome, and each of these enzymes can be ordered individually.

Sanfilippo Syndrome (MPS III) Enzyme Panel,This panel of 4 enzymes is intended for patients with a clinical suspicion of Mucopolysaccharidosis III (MPS III), Sanfilippo Syndrome. This biochemical analysis is intended for patients with clinical evidence of Sanfilippo syndrome, and each of these enzymes can be ordered individually.,82657 x4,2 weeks ,Heparan-N-sulfatase; N-acetyl-alpha-D-glucosaminidase; Acetyl CoA: glucosamine N acetyl transferase; N-acetyl glucosamine-6-sulfatase ,,$800 ,Sanfilippo syndrome is characterized by progressive developmental delay and behavioral problems. These patients have fewer of the somatic concerns seen in other types of MPS disorders. Sanfilippo syndrome is caused by a defect in one of four enzymes required for the modification and removal of glucosamine residues from heparan sulfate. A defect in one of these four enzymes (types A-D) results in the accumulation of heparan sulfate in the patient’s cells and organs which overtime leads to the clinical phenotype. Patients with Sanfilippo syndrome experience delayed development with a progressively deteriorating mental status. Behavior and sleep problems are common as well as coarse facial features and stiff joints. The four types of Sanfilippo syndrome (A-D) are clinically indistinguishable, thus enzyme testing is recommended as an initial diagnostic test.,There are four enzymatically distinct forms of Sanfilippo syndrome with significant clinical overlap. Enzymatic testing is necessary to further distinguish between the following four types. These four enzymes are required for the modification and removal of glucosamine residues from heparan sulfate. These defects result in the accumulation of heparan sulfate in the patient’s cells and organs which overtime leads to the clinical phenotype. Enzyme analysis for each type of Sanfilippo syndrome may be ordered individually or as a panel. ,4-methylumbelliferyl substrate ,,Test requires 7- 10 ml of whole blood in a sodium heparin (green top) tube. Leukocytes are used for enzyme analysis for Sanfilippo A, C and D. Plasma is used for enzyme analysis for Sanfilippo B. Enzymes can also be measured via fibroblasts for all four types.,Whole blood samples for enzyme testing should be shipped at ambient temperature and must arrive at the laboratory the next day. ,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Sanfilippo Syndrome A (MPS IIIA): SGSH Sequencing,Sanfilippo Syndrome B (MPS IIIB): NAGLU Sequencing,Sanfilippo Syndrome C (MPS IIIC): HGSNAT Sequencing,Sanfilippo Syndrome D (MPS IIID): GNS Sequencing,Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, HS),Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),,,,,,,,,,,,,,

Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, HS)

This testing includes quantitative total glycosaminoglycans and quantitative analysis of heparan sulfate (uHS). It can be used as a monitoring tool for patients with Sanfilippo syndrome (MPS III).

Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, HS),Quantitative total glycosaminoglycans can be used to monitor patients with any MPS disorder in combination with the specific components listed below Quantitative analysis of heparan sulfate (uHS) can be used as a monitoring tool for patients with Sanfilippo syndrome (MPS III).,83864 x2,10 days,Heparan-N-sulfatase; N-acetyl-alpha-D-glucosaminidase; Acetyl CoA: glucosamine N acetyl transferase; N-acetyl glucosamine-6-sulfatase ,,$300 , The mucopolysaccharidoses are a group of inherited lysosomal storage disorders, each with a distinctive phenotype and a progressive course due to a specific enzyme deficiency. These enzymes are involved in the degradation of specific glycosaminoglycans. Glycosaminoglycans are typically elevated in the urine of affected patents. For patients with an existing MPS diagnosis, measurement of glycosaminoglycans in urine can be used to monitor the effectiveness of treatments such as bone marrow translpant or enzyme replacement therapies.,Quantitative analysis of total glycosaminoglycans (GAGs) is performed using a 1,9-dimethylene blue (DMB) colorimetric reaction that is measured by spectrophotometry at a wavelength of 656 nm. GAG measurements are reported relative to the creatinine concentration in the patient’s urine. Quantification of individual glycosaminoglycans -chondroitin sulfate (uCS), dermatan sulfate (uDS), heparan sulfate (uHS), and keratan sulfate (uKS)- is performed using liquid chromatography-tandem mass spectrometry.,,,At least 3 ml of a random catch sample of urine is needed for MPS urine monitoring., Urine samples should be frozen after collection. Samples must be sent frozen via overnight delivery or courier, preferably on dry ice.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Sanfilippo Syndrome (MPS III) Enzyme Panel,Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),Sanfilippo Syndrome A (MPS IIIA): Heparan-N-Sulfatase Enzyme Analysis,Sanfilippo Syndrome B (MPS IIIB): N-Acetyl-Alpha-Glucosaminidase Enzyme Analysis,Sanfilippo Syndrome C (MPS IIIC): Acetyl CoA Glucosamine N-Acetyltransferase Enzyme Analysis,Sanfilippo Syndrome D (MPS IIID): N-Acetylglucosamine-6-Sulfatase Enzyme Analysis,Sanfilippo Syndrome A (MPS IIIA): SGSH Sequencing,Sanfilippo Syndrome B (MPS IIIB): NAGLU Sequencing,Sanfilippo Syndrome C (MPS IIIC): HGSNAT Sequencing,Sanfilippo Syndrome D (MPS IIID): GNS Sequencing,Mucopolysaccharidosis (MPS) Enzyme Panel,,,,,,,,,,

Sanfilippo Syndrome A (MPS IIIA): Heparan-N-Sulfatase Enzyme Analysis

This biochemical analysis of Heparan-N-sulfatase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis IIIA (MPS IIIA)/Sanfilippo A syndrome. In addition, it can be used to clarify molecular findings in the SGSH gene and to monitor patients undergoing treatment.

Sanfilippo Syndrome A (MPS IIIA): Heparan-N-Sulfatase Enzyme Analysis,This biochemical test is a quantitative measurement of Heparan-N-sulfatase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis IIIA (MPS IIIA)/Sanfilippo A syndrome. Demonstration of deficient Heparan-N-sulfatase enzyme activity is considered the gold standard to confirm a diagnosis of Mucopolysaccharidosis IIIA (MPS IIIA)/Sanfilippo A syndrome. In addition, it can be used to clarify molecular findings in the SGSH gene and to monitor patients undergoing treatment.,82657,2 weeks ,Heparan-N-sulfatase,,$200 ,Sanfilippo syndrome is characterized by progressive developmental delay and behavioral problems. These patients have fewer of the somatic concerns seen in other types of MPS disorders. Sanfilippo syndrome is caused by a defect in one of four enzymes required for the modification and removal of glucosamine residues from heparan sulfate. A defect in one of these four enzymes (types A-D) results in the accumulation of heparan sulfate in the patient�s cells and organs which overtime leads to the clinical phenotype. Patients with Sanfilippo syndrome experience delayed development with a progressively deteriorating mental status. Behavior and sleep problems are common as well as coarse facial features and stiff joints. The four types of Sanfilippo syndrome (A-D) are clinically indistinguishable, thus enzyme testing is recommended as an initial diagnostic test., There are four enzymatically distinct forms of Sanfilippo syndrome with significant clinical overlap. Enzymatic testing is necessary to further distinguish between the following four types. These four enzymes are required for the modification and removal of glucosamine residues from heparan sulfate. These defects result in the accumulation of heparan sulfate in the patient�s cells and organs which overtime leads to the clinical phenotype. Enzyme analysis for each type of Sanfilippo syndrome may be ordered individually or as a panel. ,4-methylumbelliferyl substrate,,Enzyme activity can be measured in leukocytes or cultured fibroblasts. For leukocytes, please send 5-7 ml of whole blood in a green top (sodium heparin) tube. ,Whole blood should be sent over overnight at ambient temperature. Do not freeze whole blood. Samples for enzyme analysis must arrive to the lab the next day. Cultured fibroblasts can be sent overnight at room temperature. ,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Sanfilippo Syndrome A (MPS IIIA): SGSH Sequencing,Sanfilippo Syndrome (MPS III) Enzyme Panel,Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, HS),Mucopolysaccharidosis (MPS) Enzyme Panel,,,,,,,,,,,,,,,,

Sanfilippo Syndrome A (MPS IIIA): SGSH Sequencing

SGSH sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IIIA (MPS IIIA), Sanfilippo syndrome A.

Sanfilippo Syndrome A (MPS IIIA): SGSH Sequencing,SGSH sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IIIA (MPS IIIA), Sanfilippo syndrome A.,81479,3 weeks,,,$1,000 ,Sanfilippo syndrome is caused by a defect in one of four enzymes required for the modification and removal of glucosamine residues from heparan sulfate. A defect in one of these four enzymes (types A-D) results in the accumulation of heparan sulfate in the patient�s cells and organs which overtime leads to the clinical phenotype. Patients with Sanfilippo syndrome experience delayed development with a progressively deteriorating mental status. Behavior and sleep problems are common as well as coarse facial features and stiff joints. The four types of Sanfilippo syndrome (A-D) are clinically indistinguishable, thus enzyme testing is recommended as an initial diagnostic test. , Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing, Sequencing of the gene will detect mutations in >90% of individuals with enzymatically confirmed Sanfilippo syndrome, Type A.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Sanfilippo Syndrome A (MPS IIIA): Heparan-N-Sulfatase Enzyme Analysis,Sanfilippo Syndrome (MPS III) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, HS),Lysosomal Storage Disease NGS Panel,,,,,,,,,,,,,,,

Sanfilippo Syndrome B (MPS IIIB): N-Acetyl-Alpha-Glucosaminidase Enzyme Analysis

This biochemical analysis of N-acetyl-alpha-D-glucosaminidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis IIIB (MPS IIIB)/Sanfilippo B syndrome. In addition, it can be used to clarify molecular findings in the NAGLU gene and to monitor patients undergoing treatment.

Sanfilippo Syndrome B (MPS IIIB): N-Acetyl-Alpha-Glucosaminidase Enzyme Analysis,This biochemical test is a quantitative measurement of N-acetyl-alpha-D-glucosaminidase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of . Demonstration of deficient N-acetyl-alpha-D-glucosaminidase enzyme activity is considered the gold standard to confirm a diagnosis of Mucopolysaccharidosis IIIB (MPS IIIB), Sanfilippo syndrome B. In addition, this assay can be used to clarify molecular findings in the NAGLU gene and to monitor patients undergoing treatment.,82657,2 weeks ,N-acetyl-alpha-D-glucosaminidase,,$200 ,Sanfilippo syndrome is characterized by progressive developmental delay and behavioral problems. These patients have fewer of the somatic concerns seen in other types of MPS disorders. Sanfilippo syndrome is caused by a defect in one of four enzymes required for the modification and removal of glucosamine residues from heparan sulfate. A defect in one of these four enzymes (types A-D) results in the accumulation of heparan sulfate in the patient�s cells and organs which overtime leads to the clinical phenotype. Patients with Sanfilippo syndrome experience delayed development with a progressively deteriorating mental status. Behavior and sleep problems are common as well as coarse facial features and stiff joints. The four types of Sanfilippo syndrome (A-D) are clinically indistinguishable, thus enzyme testing is recommended as an initial diagnostic test.,There are four enzymatically distinct forms of Sanfilippo syndrome with significant clinical overlap. Enzymatic testing is necessary to further distinguish between the following four types. These four enzymes are required for the modification and removal of glucosamine residues from heparan sulfate. These defects result in the accumulation of heparan sulfate in the patient�s cells and organs which overtime leads to the clinical phenotype. Enzyme analysis for each type of Sanfilippo syndrome may be ordered individually or as a panel. ,4-methylumbelliferyl substrate,,Enzyme activity can be measured in plasma, cultured fibroblasts, or dried blood spots. For plasma, please send 5-10 ml of whole blood in a green top (sodium heparin) tube OR plasma can removed from spun down sample and sent frozen. For dried blood spot collection, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions.,Whole blood should be sent over overnight at ambient temperature. Plamsa can be removed once the sample has been drawn and sent frozen on dry ice. Do not freeze whole blood. Cultured fibroblasts can be sent overnight at room temperature. For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples can be mailed at ambient temperature.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Sanfilippo Syndrome B (MPS IIIB): NAGLU Sequencing,Sanfilippo Syndrome (MPS III) Enzyme Panel,Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, HS),Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel (DBS),,,,,,,,,,,,,,,

Sanfilippo Syndrome B (MPS IIIB): NAGLU Sequencing

NAGLU sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IIIB (MPS IIIB), Sanfilippo syndrome B.

Sanfilippo Syndrome B (MPS IIIB): NAGLU Sequencing,NAGLU sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IIIB (MPS IIIB), Sanfilippo syndrome B.,81479,3 weeks,,,$1,200 ,Sanfilippo syndrome is caused by a defect in one of four enzymes required for the modification and removal of glucosamine residues from heparan sulfate. A defect in one of these four enzymes (types A-D) results in the accumulation of heparan sulfate in the patient�s cells and organs which overtime leads to the clinical phenotype. Patients with Sanfilippo syndrome experience delayed development with a progressively deteriorating mental status. Behavior and sleep problems are common as well as coarse facial features and stiff joints. The four types of Sanfilippo syndrome (A-D) are clinically indistinguishable, thus enzyme testing is recommended as an initial diagnostic test. , Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing, Sequencing of the gene will detect mutations in >90% of individuals with enzymatically confirmed Sanfilippo syndrome, Type B.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Sanfilippo Syndrome B (MPS IIIB): N-Acetyl-Alpha-Glucosaminidase Enzyme Analysis,Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, HS),Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel (DBS),Lysosomal Storage Disease NGS Panel,,,,,,,,,,,,,,,

Sanfilippo Syndrome C (MPS IIIC): Acetyl CoA Glucosamine N-Acetyltransferase Enzyme Analysis

This biochemical analysis of Acetyl CoA: glucosamine N acetyl transferase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis IIIC (MPS IIIC)/Sanfilippo C syndrome.

Sanfilippo Syndrome C (MPS IIIC): Acetyl CoA Glucosamine N-Acetyltransferase Enzyme Analysis,This biochemical test is a quantitative measurement of glucosamine N acetyl transferase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis IIIC (MPS IIIC), Sanfilippo syndrome C. Demonstration of deficient glucosamine N acetyl transferase enzyme activity is considered the gold standard to confirm a diagnosis of Mucopolysaccharidosis IIIC (MPS IIIC), Sanfilippo syndrome C. In addition, this assay can be used to clarify molecular findings in the HGSNAT gene and to monitor patients undergoing treatment.,82657,2 weeks ,glucosamine N acetyl transferase,,$200 ,Sanfilippo syndrome is characterized by progressive developmental delay and behavioral problems. These patients have fewer of the somatic concerns seen in other types of MPS disorders. Sanfilippo syndrome is caused by a defect in one of four enzymes required for the modification and removal of glucosamine residues from heparan sulfate. A defect in one of these four enzymes (types A-D) results in the accumulation of heparan sulfate in the patient�s cells and organs which overtime leads to the clinical phenotype. Patients with Sanfilippo syndrome experience delayed development with a progressively deteriorating mental status. Behavior and sleep problems are common as well as coarse facial features and stiff joints. The four types of Sanfilippo syndrome (A-D) are clinically indistinguishable, thus enzyme testing is recommended as an initial diagnostic test.,There are four enzymatically distinct forms of Sanfilippo syndrome with significant clinical overlap. Enzymatic testing is necessary to further distinguish between the following four types. These four enzymes are required for the modification and removal of glucosamine residues from heparan sulfate. These defects result in the accumulation of heparan sulfate in the patient’s cells and organs which overtime leads to the clinical phenotype. Enzyme analysis for each type of Sanfilippo syndrome may be ordered individually or as a panel. ,4-methylumbelliferyl substrate,,Enzyme activity can be measured in leukocytes or cultured fibroblasts. For leukocytes, please send 5-7 ml of whole blood in a green top (sodium heparin) tube.,Whole blood should be sent over overnight at ambient temperature. Do not freeze whole blood. Samples for enzyme analysis must arrive to the lab the next day. Cultured fibroblasts can be sent overnight at room temperature. ,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Sanfilippo Syndrome C (MPS IIIC): HGSNAT Sequencing,Sanfilippo Syndrome (MPS III) Enzyme Panel,Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, HS),Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),Mucopolysaccharidosis (MPS) Enzyme Panel,,,,,,,,,,,,,,,,

Sanfilippo Syndrome C (MPS IIIC): HGSNAT Sequencing

HGSNAT sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IIIC (MPS IIIC), Sanfilippo syndrome C.

Sanfilippo Syndrome C (MPS IIIC): HGSNAT Sequencing,HGSNAT sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IIIC (MPS IIIC), Sanfilippo syndrome C.,81479,3 weeks,,,$1,500 ,Sanfilippo syndrome is caused by a defect in one of four enzymes required for the modification and removal of glucosamine residues from heparan sulfate. A defect in one of these four enzymes (types A-D) results in the accumulation of heparan sulfate in the patient�s cells and organs which overtime leads to the clinical phenotype. Patients with Sanfilippo syndrome experience delayed development with a progressively deteriorating mental status. Behavior and sleep problems are common as well as coarse facial features and stiff joints. The four types of Sanfilippo syndrome (A-D) are clinically indistinguishable, thus enzyme testing is recommended as an initial diagnostic test. , Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Sanfilippo Syndrome C (MPS IIIC): Acetyl CoA Glucosamine N-Acetyltransferase Enzyme Analysis,Sanfilippo Syndrome (MPS III) Enzyme Panel,Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, HS),Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel (DBS),,,,,,,,,,,,,,,

Sanfilippo Syndrome D (MPS IIID): GNS Sequencing

GNS sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IIID (MPS IIID), Sanfilippo syndrome D.

Sanfilippo Syndrome D (MPS IIID): GNS Sequencing,GNS sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IIID (MPS IIID), Sanfilippo syndrome D.,81479,3 weeks,,,$1,000 ,Sanfilippo syndrome is caused by a defect in one of four enzymes required for the modification and removal of glucosamine residues from heparan sulfate. A defect in one of these four enzymes (types A-D) results in the accumulation of heparan sulfate in the patient�s cells and organs which overtime leads to the clinical phenotype. Patients with Sanfilippo syndrome experience delayed development with a progressively deteriorating mental status. Behavior and sleep problems are common as well as coarse facial features and stiff joints. The four types of Sanfilippo syndrome (A-D) are clinically indistinguishable, thus enzyme testing is recommended as an initial diagnostic test. ,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Sanfilippo Syndrome D (MPS IIID): N-Acetylglucosamine-6-Sulfatase Enzyme Analysis,Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, HS),Sanfilippo Syndrome (MPS III) Enzyme Panel,Sanfilippo Syndrome A (MPS IIIA): SGSH Sequencing,Sanfilippo Syndrome B (MPS IIIB): NAGLU Sequencing,Sanfilippo Syndrome C (MPS IIIC): HGSNAT Sequencing,Mucopolysaccharidosis (MPS) Enzyme Panel,,,,,,,,,,,,,,

Sanfilippo Syndrome D (MPS IIID): N-Acetylglucosamine-6-Sulfatase Enzyme Analysis

This biochemical analysis of N-acetyl glucosamine-6-sulfatase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis IIID (MPS IIID)/SanfilippoD syndrome.

Sanfilippo Syndrome D (MPS IIID): N-Acetylglucosamine-6-Sulfatase Enzyme Analysis,This biochemical test is a quantitative measurement of N-acetyl glucosamine-6-sulfatase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis IIID (MPS IIID), Sanfilippo syndrome D. Demonstration of deficient N-acetyl glucosamine-6-sulfataseenzyme activity is considered the gold standard to confirm a diagnosis of Mucopolysaccharidosis IIID (MPS IIID), Sanfilippo syndrome D. In addition, this assay can be used to clarify molecular findings in the GNS gene and to monitor patients undergoing treatment.,82657,2 weeks ,N-acetyl glucosamine-6-sulfatase,,$200 ,Sanfilippo syndrome is characterized by progressive developmental delay and behavioral problems. These patients have fewer of the somatic concerns seen in other types of MPS disorders. Sanfilippo syndrome is caused by a defect in one of four enzymes required for the modification and removal of glucosamine residues from heparan sulfate. A defect in one of these four enzymes (types A-D) results in the accumulation of heparan sulfate in the patient’s cells and organs which overtime leads to the clinical phenotype. Patients with Sanfilippo syndrome experience delayed development with a progressively deteriorating mental status. Behavior and sleep problems are common as well as coarse facial features and stiff joints. The four types of Sanfilippo syndrome (A-D) are clinically indistinguishable, thus enzyme testing is recommended as an initial diagnostic test.,There are four enzymatically distinct forms of Sanfilippo syndrome with significant clinical overlap. Enzymatic testing is necessary to further distinguish between the following four types. These four enzymes are required for the modification and removal of glucosamine residues from heparan sulfate. These defects result in the accumulation of heparan sulfate in the patient�s cells and organs which overtime leads to the clinical phenotype. Enzyme analysis for each type of Sanfilippo syndrome may be ordered individually or as a panel. ,4-methylumbelliferyl substrate,,Enzyme activity can be measured in leukocytes or fibroblasts. For leukocytes, please send 5-7 ml of whole blood in a green top (sodium heparin) tube. For fibroblasts, fresh tissue or cultured tissue can be accepted. For cultured tissue, please send two T25 flasks. If cultured tissue is being sent, a control flask is requested in addition to the patient sample. Fresh tissue should be placed in transport media (preferred) or sterile saline. See the link below for additional sample collection and handling instructions.,Whole blood should be sent over overnight at ambient temperature. Do not freeze whole blood. Samples for enzyme analysis must arrive to the lab within 24 hours of blood draw. Fibroblasts should be shipped overnight. ,,https://ggc.org/wp-content/uploads/2020/12/Greenwood-Biochemical-Requisition.pdf,Sanfilippo Syndrome D (MPS IIID): GNS Sequencing,Sanfilippo Syndrome (MPS III) Enzyme Panel,Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, HS),Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel (DBS),,,,,,,,,,,,,,,

Morquio Syndrome (MPS IV) Enzyme Panel

This panel of 2 enzymes is intended for patients with a diagnosis or clinical suspicion of Mucopolysaccharidosis IV (MPSIV)/Morquio syndrome.

Morquio Syndrome (MPS IV) Enzyme Panel,This panel of 2 enzymes is intended for patients with a diagnosis or clinical suspicion of Mucopolysaccharidosis IV (MPSIV)/Morquio syndrome. Enzyme analysis for each type of Morquio syndrome may be ordered individually or as a panel.,82657 x2,2 weeks ,N-acetyl-galactosamine-6-sulfatase; beta-galactosidase,,$400 ,Morquio syndrome is characterized by short stature and trunk, large head, mildly coarse facies, widely spaced teeth, corneal clouding, a bell-shaped chest, vertebral anomalies, joint stiffness and kyphoscoliosis. Other features may include inguinal hernia, hepatomegaly and hearing loss. There is a wide spectrum of those affected ranging from mild to severe. Intelligence is typically not affected.,Morquio, Types A and B can have significant clinical overlap, thus enzyme analysis is necessary to distinguish between the two types. These enzymes are needed for the modification and removal of keratin sulfate. ,4-methylumbelliferyl substrate,,Enzyme activity can be measured in leukocytes, cultured fibroblasts, or dried blood spots. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. For dried blood spot collection, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions. ,Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory the next day. Cultured fibroblasts should be sent overnight at room temperature. For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples can be mailed at ambient temperature.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Morquio Syndrome A (MPS IVA): N-Acetylgalactosamine-6-Sulfatase Enzyme Analysis,,Morquio Syndrome A (MPS IVA): GALNS Sequencing,,Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),Morquio Syndrome (MPS IV): Urine Monitoring (Total GAGs, KS, CS),,,,,,,,,,,,,,

Morquio Syndrome (MPS IV): Urine Monitoring (Total GAGs, KS, CS)

Urine GAG analysis is useful to monitor patients with an MPS disorder.

Morquio Syndrome A (MPS IVA): GALNS Sequencing

GALNS sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IVA (MPSIVA), Morquio syndrome A .

Morquio Syndrome A (MPS IVA): N-Acetylgalactosamine-6-Sulfatase Enzyme Analysis

This biochemical analysis of N-acetyl-galactosamine-6-sulfatase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis IVA (MPSIVA)/Morquio A syndrome. In addition, it can be used to clarify molecular findings in the GALNS gene and to monitor patients undergoing treatment.

Morquio Syndrome A (MPS IVA): N-Acetylgalactosamine-6-Sulfatase Enzyme Analysis,This is a quantification of enzyme activity. Demonstration of deficient enzyme activity is considered the gold standard to confirm the diagnosis.,82657,2 weeks ,N-acetyl-galactosamine-6-sulfatase; Beta-galactosidase,,$200.00 ,Morquio syndrome is characterized by short stature and trunk, large head, mildly coarse facies, widely spaced teeth, corneal clouding, a bell-shaped chest, vertebral anomalies, joint stiffness and kyphoscoliosis. Other features may include inguinal hernia, hepatomegaly and hearing loss. There is a wide spectrum of those affected ranging from mild to severe. Intelligence is typically not affected., Morquio, Types A and B can have significant clinical overlap, thus enzyme analysis is necessary to distinguish between the two types. These enzymes are needed for the modification and removal of keratin sulfate. Enzyme analysis for each type of Morquio syndrome may be ordered individually or as a panel. Prenatal diagnosis and carrier testing via enzyme analysis are not available.,4-methylumbelliferyl substrate,,Enzyme activity can be measured in leukocytes, cultured fibroblasts, or dried blood spots. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. For dried blood spot collection, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions. ,Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory the next day. Cultured fibroblasts should be sent overnight at room temperature. For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples can be mailed at ambient temperature.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,,,,,,,,,,,,,,,,,,,,,

Morquio Syndrome B (MPS IVB), GM1 Gangliosidosis: Beta-galactosidase Enzyme Analysis

This biochemical analysis of Beta-galactosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis IVB (MPS IVB)/Morquio B syndrome or GM1 Gangliosidosis. In addition, it can be used to clarify molecular findings in the GLB1 gene and to monitor patients undergoing treatment.

Morquio Syndrome B (MPS IVB), GM1 Gangliosidosis: Beta-galactosidase Enzyme Analysis,This is a quantification of enzyme activity. Demonstration of deficient enzyme activity is considered the gold standard to confirm the diagnosis.,82657,2 weeks ,Beta-galactosidase,,$200.00 ,Morquio syndrome is characterized by short stature and trunk, large head, mildly coarse facies, widely spaced teeth, corneal clouding, a bell-shaped chest, vertebral anomalies, joint stiffness and kyphoscoliosis. Other features may include inguinal hernia, hepatomegaly and hearing loss. There is a wide spectrum of those affected ranging from mild to severe. Intelligence is typically not affected.,Morquio, Types A and B can have significant clinical overlap, thus enzyme analysis is necessary to distinguish between the two types. These enzymes are needed for the modification and removal of keratin sulfate. Enzyme analysis for each type of Morquio syndrome may be ordered individually or as a panel. Prenatal diagnosis and carrier testing via enzyme analysis are not available.,4-methylumbelliferyl substrate,,Enzyme activity can be measured in leukocytes, cultured fibroblasts, or dried blood spots. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. For dried blood spot collection, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions. ,Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory the next day. Cultured fibroblasts should be sent overnight at room temperature. For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples can be mailed at ambient temperature.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,,Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease Enzyme Panel (DBS),Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel (DBS),Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),Oligosaccharide Urine Analysis,,,,,,,,,,,,,,

Morquio Syndrome B (MPS IVB), GM1 Gangliosidosis: GLB1 Sequencing

GLB1 sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IVB (MPS IVB), GM1 Gangliosidosis, Morquio syndrome B.

Maroteaux-Lamy Syndrome (MPS VI): ARSB Sequencing

ARSB sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis VI (MPSVI), Maroteaux-Lamy syndrome.

Maroteaux-Lamy Syndrome (MPS VI): ARSB Sequencing,ARSB sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis VI (MPSVI), Maroteaux-Lamy syndrome.,81479,3 weeks,,,$800.00 ,Maroteaux-Lamy syndrome, also known as mucopolysaccharidosis VI, is a lysosomal storage disorder caused by a deficiency in the arylsulfatase B enzyme. The clinical features include short stature, corneal clouding, hepatosplenomegaly, cardiac abnormalities, and skeletal findings such as dysostosis multiplex and joint contractures. However, unlike many of the other MPS disorders, individuals with Maroteaux-Lamy generally have normal intelligence. Maroteaux Lamy syndrome is characterized by short stature, coarse facies, corneal clouding, joint stiffness and contractures and splenomegaly. Other features may include inguinal hernia, obstructive airway disease, skeletal abnormalities and cardiac valve disease. The progression of Maroteaux Lamy syndrome varies among affected individuals, and intelligence is typically not affected., Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,,,,,,,,,,,,,,,,,,,,,

Maroteaux-Lamy Syndrome (MPS VI): Arylsulfatase B Enzyme Analysis

This biochemical analysis of Arylsulfatase B enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis VI (MPSVI)/Maroteaux-Lamy syndrome.

Maroteaux-Lamy Syndrome (MPS VI): Arylsulfatase B Enzyme Analysis,This biochemical test is a quantitative measurement of Arylsulfatase B enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis VI (MPSVI)/Maroteaux-Lamy syndrome. Demonstration of deficient Arylsulfatase B enzyme activity is considered the gold standard to confirm a diagnosis of Mucopolysaccharidosis VI (MPSVI)/Maroteaux-Lamy syndrome.,82657,2 weeks ,Arylsulfatase B,,$200 ,Maroteaux Lamy syndrome is characterized by short stature, coarse facies, corneal clouding, joint stiffness and contractures and splenomegaly. Other features may include inguinal hernia, obstructive airway disease, skeletal abnormalities and cardiac valve disease. The progression of Maroteaux Lamy syndrome varies among affected individuals, and intelligence is typically not affected.,This test can be used to confirm a suspected Maroteaux Lamy syndrome diagnosis.,4-methylumbelliferyl substrate,,Enzyme activity can be measured in leukocytes, cultured fibroblasts, or dried blood spots. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. For dried blood spot collection, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions. ,Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory the next day. Cultured fibroblasts should be sent overnight at room temperature. For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples can be mailed at ambient temperature.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Maroteaux-Lamy Syndrome (MPS VI): ARSB Sequencing,Maroteaux-Lamy Syndrome (MPS VI): Urine Monitoring (Total GAGs, DS),Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel (DBS),Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),,,,,,,,,,,,,,,,

Maroteaux-Lamy Syndrome (MPS VI): Urine Monitoring (Total GAGs, DS)

This test includes quantitative total glycosaminoglycans and dermatan sulfate (uDS) component GAGs and can be used to monitor patients with with Maroteaux Lamy syndrome (MPS VI).

Sly Syndrome (MPS VII): Beta-glucuronidase Enzyme Analysis

This biochemical analysis of Beta-glucuronidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis VII (MPS VII)/Sly Syndrome.

Sly Syndrome (MPS VII): Beta-glucuronidase Enzyme Analysis,This biochemical test is a quantitative measurement of beta-glucuronidase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis VII (MPS VII), Sly Syndrome. Demonstration of deficient beta-glucuronidase enzyme activity is considered the gold standard to confirm a diagnosis of Mucopolysaccharidosis VII (MPS VII), Sly Syndrome.,82657,2 weeks ,Beta-glucuronidase ,,$200 , Sly syndrome, or mucopolysaccharidosis type VII, is a lysosomal storage disorder resulting from deficient enzyme activity of beta-glucuronidase. This autosomal recessive disorder has a highly variable phenotype. The most severe form presents prenatally as hydrops fetalis. Patients with a less severe phenotype present with hepatomegaly, skeleltal anomalies and coarse facies. The degree of cognitive impairment varies with the mildest cases surviving into adulthood.,This test can be used to confirm a suspected Sly syndrome diagnosis.,4-methylumbelliferyl substrate,,Enzyme activity can be measured in leukocytes, cultured fibroblasts, or dried blood spots. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. For dried blood spot collection, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions. ,Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory the next day. Cultured fibroblasts should be sent overnight at room temperature. For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples can be mailed at ambient temperature.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Sly Syndrome (MPS VII): GUSB Sequencing,Sly Syndrome (MPS VII): Urine Monitoring (Total GAGs, DS, CS),Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel (DBS),Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),,,,,,,,,,,,,,,,

Sly Syndrome (MPS VII): GUSB Sequencing

GUSB sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis VII (MPS VII), Sly Syndrome.

Sly Syndrome (MPS VII): GUSB Sequencing,GUSB sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis VII (MPS VII), Sly Syndrome.,81479,3 weeks,,,$1,000 ,Sly syndrome, or mucopolysaccharidosis type VII, is a lysosomal storage disorder resulting from deficient enzyme activity of beta-glucuronidase. This autosomal recessive disorder has a highly variable phenotype. The most severe form presents prenatally as hydrops fetalis. Patients with a less severe phenotype present with hepatomegaly, skeleltal anomalies and coarse facies. The degree of cognitive impairment varies with the mildest cases surviving into adulthood.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Sly Syndrome (MPS VII): Beta-glucuronidase Enzyme Analysis,Sly Syndrome (MPS VII): Urine Monitoring (Total GAGs, DS, CS),Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel (DBS),Lysosomal Storage Disease NGS Panel,,,,,,,,,,,,,,,

Sly Syndrome (MPS VII): Urine Monitoring (Total GAGs, DS, CS)

This test includes quantitative total glycosaminoglycans as well as dermatan and chondroitin sulfate (uDS, uCS) component GAGs and can be used to monitor patients with Sly syndrome (MPS VII).

Sly Syndrome (MPS VII): Urine Monitoring (Total GAGs, DS, CS),This test includes quantitative total glycosaminoglycans and dermatan and chondroitin sulfate (uDS, uCS) component GAGs and can be used a monitoring tool for patients with Sly syndrome (MPS VII).,83864 x2,14 days,,,$300 ,Sly syndrome, or mucopolysaccharidosis type VII, is a lysosomal storage disorder resulting from deficient enzyme activity of beta-glucuronidase. This autosomal recessive disorder has a highly variable phenotype. The most severe form presents prenatally as hydrops fetalis. Patients with a less severe phenotype present with hepatomegaly, skeleltal anomalies and coarse facies. The degree of cognitive impairment varies with the mildest cases surviving into adulthood.,For patients with an existing MPS diagnosis, measurement of glycosaminoglycans in urine can be used to monitor the effectiveness of treatments such as bone marrow translpant or enzyme replacement therapies.,Quantitative analysis of total glycosaminoglycans (GAGs) is performed using a 1,9-dimethylene blue (DMB) colorimetric reaction that is measured by spectrophotometry at a wavelength of 656 nm. GAG measurements are reported relative to the creatinine concentration in the patient’s urine. Quantification of individual glycosaminoglycans -chondroitin sulfate (uCS), dermatan sulfate (uDS), heparan sulfate (uHS), and keratan sulfate (uKS)- is performed using liquid chromatography-tandem mass spectrometry.,,At least 3 ml of a random catch sample of urine is needed for MPS urine monitoring.,Urine samples should be frozen after collection. Samples must be sent frozen via overnight delivery or courier, preferably on dry ice.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),Sly Syndrome (MPS VII): Beta-glucuronidase Enzyme Analysis,Sly Syndrome (MPS VII): GUSB Sequencing,Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel (DBS),,,,,,,,,,,,,,,,

Multiple Sulfatase Deficiency Enzyme Panel

This panel of enzymes is intended for patients with a diagnosis or clinical suspicion of Multiple Sulfatase Deficiency.

Myotonic Dystrophy: DMPK Trinucleotide Repeat Analysis

DMPK trinucleotide repeat analysis is a molecular test used to identify expanded CTG repeats in the gene associated with Myotonic dystrophy.

Myotonic Dystrophy: DMPK Trinucleotide Repeat Analysis,DMPK trinucleotide repeat analysis is a molecular test used to identify expanded CTG repeats in the gene associated with type 1 myotonic dystrophy.,81234,3 weeks,,,$350 ,Myotonic dystrophy is the most common form of adult onset muscular dystrophy and has an incidence of 1/8000 individuals. The genetic defect in the disorder is the expansion of a (CTG) trinucleotide repeat in the DMPK gene. This autosomal dominant disorder is characterized by myotonia, muscle wasting, frontal balding, hypogonadism, and ocular and ECG abnormalities. Genetic anticipation is commonly seen in families with myotonic dystrophy. In these families, extreme amplification can occur during mother to child transmission of the abnormal allele leading to a congenital form of the disease. Congenital myotonic dystrophy can be associated with a very severe disease state including generalized hypotonia and intellectual disability. Molecular diagnosis of myotonic dystrophy involves a combination of Southern blotting tests and direct PCR analysis to determine the (CTG) repeat number.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Trinucleotide Repeat,PCR and Southern blot analysis are used in combination to determine allele repeat size. PCR will detect up to approximately 100 CTG repeats while Southern blot is used to detect the larger repeats.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA is also accepted for this test.,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,,,,,,,,,,,,,,,,,,,,,

Myotubular Myopathy, X-Linked: MTM1 Sequencing

MTM1 sequencing is a molecular test used to identify variants in the gene associated with X-linked Myotubular Myopathy.

Myotubular Myopathy, X-Linked: MTM1 Sequencing,MTM1 sequencing is a molecular test used to identify variants in the gene associated with X-linked Myotubular Myopathy.,81406,6 weeks,,,$1,500 ,This X-linked disorder primarily affects males with female carriers usually being asymptomatic. Respiratory distress, hypotonia , and muscle weakness are common manifestations in the newborn period for all three forms of the disorder (mild, moderate and severe). The severe form can present prenatally with polyhydramnios and decreased fetal movement; these patients may require a ventilator permanently. Motor milestones can range from mildly delayed to significantly delayed with some patients never being able to ambulate. The muscle weakness can also involve the facial and extraocular muscles. Mildly affected patients may only need ventilator support in the neonatal period and achieve ambulation.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,Sequencing of the MTM1 gene will detect a mutation in a majority of patients. It is estimated that about 7% may have a deletion or duplication.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Myotubular Myopathy, X-Linked: MTM1 Sequencing,X-Linked Intellectual Disability (XLID) NGS Panel,Creatine Kinase Analysis,,Creatine Kinase Analysis,,,,,,,,,,,,,,,,

Neurological Enzyme Panel

This panel of enzymes is intended for patients with neurological symptoms suggestive of a lysosomal storage disorder and includes quantification of the activity of 9 enzymes.

Neurological Enzyme Panel,This panel of enzymes is intended for patients with neurological symptoms suggestive of a lysosomal storage disorder (LSD) and includes quantification of the activity of 9 enzymes. Enzyme analysis and demonstrating deficient activity is considered the gold-standard in diagnosing lysosomal storage disorders.,82657 x3,2 weeks,Palmitoyl-protein thioesterase 1; Tripeptidyl peptidase 1; Alpha-galactosidase; Beta-galactosidase; Beta-glucosidase; Galactocerebrosidase; Arylsulfatase A; Acid sphingomyelinase; Beta-hexosaminidase,,$600 ,Lysosomal storage disorders are a broad group of diseases composed of a variety of sub-groups of disorders, such as the mucopolysaccharidoses, the glycoproteinoses, and the sphingolipidoses. A lysosomal storage disease can present in a number of different ways. Infants or children may have growth failure, developmental regression, corneal or lens clouding, hepato- and/or splenomegaly, coarsening facial features and skeletal abnormalities. Some disorders are more likely to have a neurological presentation or present in adults. While a diverse group, different storage diseases may have similar clinical features, thus it may be necessary to measure a number of different enzyme activities prior to finding the one deficient in a particular patient.,Enzyme testing may be ordered as follow-up to abnormal urine screening or as a first tier testing. ,Assay utilizes 4-methylumbelliferyl substrate and LC-MS/MS ,,Enzyme activity can be measured in whole blood. Please send 5-7 ml of whole blood in a green top (sodium heparin) tube. ,Enzyme samples must arrive at the laboratory the next day. Ship overnight at room temperature. Specimens should be sent at ambient temperature. Do not freeze or allow the sample to get above room temperature during shipment.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Fabry Disease: Alpha-galactosidase Enzyme Analysis,Fabry Disease: GLA Sequencing,Gaucher Disease: Beta-glucosidase Enzyme Analysis,Gaucher Disease: GBA Sequencing,Krabbe Disease: Galactocerebrosidase Enzyme Analysis,Krabbe Disease: GALC Sequencing,Metachromatic Leukodystrophy: ARSA Sequencing,,Neuronal Ceroid Lipofuscinosis 1 (CLN1): PPT1 Sequencing,Neuronal Ceroid Lipofuscinosis 2 (CLN2): TPP1 Sequencing,Niemann-Pick Disease A/B: Acid Sphingomyelinase Enzyme Analysis,Niemann-Pick Disease A/B: SMPD1 Sequencing,Sandhoff Disease: HEXB Sequencing,Tay-Sachs Disease: HEXA Sequencing,,,,,,,

Neuromuscular Disorders NGS Panel

This panel of 144 genes intended for patients with symptoms of Neuromuscular Disorders and is performed by Next Generation Sequencing (NGS).

Neuromuscular Disorders NGS Panel,This panel of 144 genes intended for patients with symptoms of Neuromuscular Disorders and is performed by Next Generation Sequencing (NGS).,81479,8 weeks,,,$3,500 ,This panel consists of 144 genes that have been associated with inherited neuromuscular diseases. This panel includes nuclear-encoded mitochondrial genes and select storage-disorder genes. Hereditary neuropathies, including Charcot-Marie-Tooth disease, affect the peripheral nervous system and include symptoms of muscle weakness, decreased reflexes, foot deformities, and loss of sensation. Myopathies are associated with weakness and dysfunction of predominantly proximal skeletal muscles, and wasting may occur in later stages of disease. Congenital myasthenic syndromes are caused by disruptions in the transmission of nerve signals to the muscles, and symptoms may involve weakness of muscles involved in swallowing, speech, and breathing or fatigability upon exertion. The muscular dystrophies tend to display progressive muscle weakness and atrophy due to abnormalities in the cellular maintenance of muscle membranes. These conditions can be inherited in autosomal dominant, autosomal recessive, and X-linked patterns, and each group of disorders exhibits variable clinical presentation, age of onset, degree of severity, and disease progression. In addition to clinical evaluation and genetic testing, diagnosis for these conditions may require electromyogram and nerve conduction studies, muscle biopsy, and CPK and other biochemical testing. ,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Charcot-Marie-Tooth Disease Type 1A: PMP22 Deletion/Duplication MLPA,Charcot-Marie-Tooth Hereditary Neuropathy NGS Panel,Creatine Kinase Analysis,Copper Transport Disorders: ATP7A Sequencing,Creatine Kinase Analysis,CytoScan Xon Microarray: 2-10 Genes,Duchenne/Becker Muscular Dystrophy: DMD Deletion/Duplication MLPA,Pompe Disease, Glycogen Storage Disease Type II: Alpha-glucosidase Enzyme Analysis,Pompe Disease, Glycogen Storage Disease Type II: GAA Sequencing,Myotubular Myopathy, X-Linked: MTM1 Sequencing,POLG1-Related Disorders: POLG1 Sequencing,QUICK Analysis,,,,,,,,,

Neuronal Ceroid Lipofuscinoses NGS Panel

This panel of 9 genes intended for patients with a diagnosis or clinical suspicion of Neuronal Ceroid Lipofuscinoses and is performed by Next Generation Sequencing (NGS).

Neuronal Ceroid Lipofuscinoses NGS Panel,This panel of 9 genes intended for patients with a diagnosis or clinical suspicion of Neuronal Ceroid Lipofuscinoses and is performed by Next Generation Sequencing (NGS).,81479,5 weeks,,,$2,500 ,The neuronal ceroid-lipofuscinoses (NCLs) are a genetically heterogenous group of neurodegenerative lysosomal storage disorders. While most are autosomal recessive, there is at least one autosomal dominant NCL. The severity and phenotype varies within this group of disorders, but almost all are characterized by progressive cognitive and motor deterioration as well as seizures. Vision loss, developmental delay, ataxia, intellectual disability, and early death are also common within the group of NCLs. Age of onset can range from infantile to childhood to adult onset. Gene List and Phenotypes CLN3 – Neuronal Ceroid Lipofuscinosis 3; Batten Disease CLN4 – Neuronal Ceroid Lipofuscinosis 4B, AD CLN5 – Neuronal Ceroid Lipofuscinosis 5 CLN6 – Neuronal Ceroid Lipofuscinosis 6 CLN8 – Neuronal Ceroid Lipofuscinosis 8 CTSD – Neuronal Ceroid Lipofuscinosis 10 PPT1 – Neuronal Ceroid Lipofuscinosis 1 TPP1- Neuronal Ceroid Lipofuscinosis 2 MFSD8 – Neuronal Ceroid Lipofuscinosis 7,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,CytoScan Xon Microarray: 2-10 Genes,Focused NGS – Panel,Lysosomal Storage Disease NGS Panel,Neurological Enzyme Panel,Neuronal Ceroid Lipofuscinosis 1 (CLN1): Palmitoyl-Protein Thioesterase 1 Enzyme Analysis,Neuronal Ceroid Lipofuscinosis 1 (CLN1): PPT1 Sequencing,Neuronal Ceroid Lipofuscinosis 2 (CLN2): Tripeptidyl Peptidase 1 Enzyme Analysis,Neuronal Ceroid Lipofuscinosis 2 (CLN2): TPP1 Sequencing,Neuronal Ceroid Lipofuscinosis 3, Batten Disease: CLN3 Sequencing,QUICK Analysis,,,,,,,,,,,

Neuronal Ceroid Lipofuscinosis 1 (CLN1): Palmitoyl-Protein Thioesterase 1 Enzyme Analysis

This biochemical analysis of Palmitoyl-protein thioesterase 1 enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Neuronal Ceroid Lipofuscinosis Type 1 (CLN1). In addition, it can be used to clarify molecular findings in the PPT1 gene and to monitor patients undergoing treatment.

Neuronal Ceroid Lipofuscinosis 1 (CLN1): Palmitoyl-Protein Thioesterase 1 Enzyme Analysis,This biochemical test is a quantitative measurement of palmitoyl-protein thioesterase 1 enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Neuronal Ceroid Lipofuscinosis Type 1 (CLN1). Demonstration of deficient palmitoyl-protein thioesterase 1 enzyme activity is considered the gold standard to confirm a diagnosis of Neuronal Ceroid Lipofuscinosis Type 1 (CLN1). In addition, this assay can be used to clarify molecular findings in the PPT1 gene and to monitor patients undergoing treatment.,82657,2 weeks ,Palmitoyl-protein thioesterase 1 ,,$200 ,The neuronal ceroid lipofuscinoses (CLN) are a group of conditions that are inherited in an autosomal recessive pattern. CLN1 is characterized by progressive microcephaly, contractures, developmental delay, psychiatric symptoms, and neurological degeneration including seizures and ataxia. Retinal and macular degeneration leads to blindness by the age of 2 years with diminished or abolished ERG results. Age of onset varies with infantile, late-infantile, juvenile and adult-onset forms of the disease with younger ages of onset typically associated with a more rapid progression of symptoms. The intracellular accumulation of lipopigments results in a characteristic microscopic pattern called granular osmiophilic deposits (GROD).,This test can be used to confirm a suspected neuronal ceroid lipofuscinosis 1 (CLN1) diagnosis. Prenatal diagnosis and carrier testing via enzyme analysis are not available.,4-methylumbelliferyl substrate,,Enzyme activity can be measured in leukocytes. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. See the link below for additional sample collection and handling instructions. ,Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory the next day.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Lysosomal Storage Disease NGS Panel,Neurological Enzyme Panel,Neuronal Ceroid Lipofuscinoses NGS Panel,Neuronal Ceroid Lipofuscinosis 1 (CLN1): PPT1 Sequencing,,,,,,,,,,,,,,,,,

Neuronal Ceroid Lipofuscinosis 1 (CLN1): PPT1 Sequencing

PPT1 sequencing is a molecular test used to identify variants in the gene associated with Neuronal Ceroid Lipofuscinosis Type 1 (CLN1).

Neuronal Ceroid Lipofuscinosis 1 (CLN1): PPT1 Sequencing,PPT1 sequencing is a molecular test used to identify variants in the gene associated with Neuronal Ceroid Lipofuscinosis Type 1 (CLN1).,81479,3 weeks,,,$800 ,The neuronal ceroid lipofuscinoses (CLN) are a group of conditions that are inherited in an autosomal recessive pattern. CLN1 is characterized by progressive microcephaly, contractures, developmental delay, psychiatric symptoms, and neurological degeneration including seizures and ataxia. Retinal and macular degeneration leads to blindness by the age of 2 years with diminished or abolished ERG results. Age of onset varies with infantile, late-infantile, juvenile and adult-onset forms of the disease with younger ages of onset typically associated with a more rapid progression of symptoms. The intracellular accumulation of lipopigments results in a characteristic microscopic pattern called granular osmiophilic deposits (GROD)., Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Lysosomal Storage Disease NGS Panel,Neurological Enzyme Panel,Neuronal Ceroid Lipofuscinoses NGS Panel,Neuronal Ceroid Lipofuscinosis 1 (CLN1): Palmitoyl-Protein Thioesterase 1 Enzyme Analysis,,,,,,,,,,,,,,,,,

Neuronal Ceroid Lipofuscinosis 2 (CLN2): TPP1 Sequencing

TPP1 sequencing is a molecular test used to identify variants in the gene associated with Neuronal Ceroid Lipofuscinosis Type 2 (CLN2).

Neuronal Ceroid Lipofuscinosis 2 (CLN2): TPP1 Sequencing,TPP1 sequencing is a molecular test used to identify variants in the gene associated with Neuronal Ceroid Lipofuscinosis Type 2 (CLN2).,81479,3 weeks,,,$1,000 ,The neuronal ceroid lipofuscinoses (CLN) are a group of conditions that are inherited in an autosomal recessive pattern. CLN2, also known as late-infantile or LICLN, generally begins with the onset of seizures between the ages of 2 to 4 years. Developmental regression follows including speech and motor problems along with cognitive decline. In addition to specific findings on EEG and evoked potentials, neurological deterioration is evidenced by ataxia and myoclonus. Retinal degeneration leads to progressive vision loss and ultimately, blindness. The lipopigment pattern seen in CLN2 under microscopic evaluation is said to be curvilinear. Death usually occurs by 10-15 years of age.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Lysosomal Storage Disease Enzyme Panel (DBS),Lysosomal Storage Disease NGS Panel,Neurological Enzyme Panel,Neuronal Ceroid Lipofuscinoses NGS Panel,Neuronal Ceroid Lipofuscinosis 2 (CLN2): Tripeptidyl Peptidase 1 Enzyme Analysis,,,,,,,,,,,,,,,,

Neuronal Ceroid Lipofuscinosis 2 (CLN2): Tripeptidyl Peptidase 1 Enzyme Analysis

This biochemical analysis of Tripeptidyl peptidase 1 enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2). In addition, it can be used to clarify molecular findings in the TPP1 gene and to monitor patients undergoing treatment.

Neuronal Ceroid Lipofuscinosis 2 (CLN2): Tripeptidyl Peptidase 1 Enzyme Analysis,This biochemical test is a quantitative measurement of tripeptidyl peptidase 1 enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2). Demonstration of deficient tripeptidyl peptidase 1 enzyme activity is considered the gold standard to confirm a diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2). In addition, it can be used to clarify molecular findings in the TPP1 gene and to monitor patients undergoing treatment.,82657,2 weeks ,Tripeptidyl peptidase 1 ,,$200 ,The neuronal ceroid lipofuscinoses (CLN) are a group of conditions that are inherited in an autosomal recessive pattern. CLN1 is characterized by progressive microcephaly, contractures, developmental delay, psychiatric symptoms, and neurological degeneration including seizures and ataxia. Retinal and macular degeneration leads to blindness by the age of 2 years with diminished or abolished ERG results. Age of onset varies with infantile, late-infantile, juvenile and adult-onset forms of the disease with younger ages of onset typically associated with a more rapid progression of symptoms. The intracellular accumulation of lipopigments results in a characteristic microscopic pattern called granular osmiophilic deposits (GROD).,This test can be used to confirm a suspected neuronal ceroid lipofuscinosis 2 (CLN2) diagnosis.,LC-MS/MS ,,Enzyme activity is measured in dried blood spots. A minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). A whole blood sample (3-5 ml) in a green top, sodium heparin tube can also be submitted for this test. The laboratory will create a DBS card from the tube of blood when the specimen arrives. ,For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Whole blood samples should be sent at ambient temperature and must arrive to the laboratory the next day. ,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease NGS Panel,Neurological Enzyme Panel,Neuronal Ceroid Lipofuscinoses NGS Panel,Neuronal Ceroid Lipofuscinosis 2 (CLN2): TPP1 Sequencing,,,,,,,,,,,,,,,,

Niemann-Pick Disease A/B: Acid Sphingomyelinase Enzyme Analysis

This biochemical analysis of Acid sphingomyelinase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Niemann-Pick A/B disease.

Niemann-Pick Disease A/B: Acid Sphingomyelinase Enzyme Analysis,This biochemical test is a quantitative measurement of acid sphingomyelinase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Niemann-Pick A/B disease. Demonstration of deficient sphingomyelinase enzyme activity is considered the gold standard to confirm a diagnosis of Niemann-Pick A/B disease.,82657,2 weeks ,Acid sphingomyelinase,,$200 ,Niemann-Pick disease caused by acid sphingomyelinase deficiecncy is subdivided into two types. Type A, also called neuronopathic, is the more severe. These patients will usually present with hepatosplenomegaly within the first few months and will have progressive neurologic deterioration typically beginning by 12 months. A cherry-red spot on the retina will eventually be present in all affected children. Children with Niemann-Pick type A do not typically survive past 3 years. Type B, or non-neuronopathic, is usually milder with a later onset. Progressive hepatosplenomegaly, gradual deterioration in pulmonary function, and an abnormal lipid profile are common manifestations for these patients. A small percentage of individuals with type B will have neurologic signs or a cherry-red spot.,This test can be requested for patients with a suspected diagnosis of Niemann Pick type A or B. Demonstration of deficient enzyme activity is considered the gold standard to confirm the diagnosis. ,ultra-performance liquid chromatography and tandem mass spectrometry (UPLC-MS/MS),,The acid sphingomyelinase enzyme analysis is performed on dried blood spots. A minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). A whole blood sample (3-5 ml) in a green top, sodium heparin tube can also be submitted for this test. ,Whole blood should be sent over overnight at ambient temperature and needs to arrive to the lab the next day. For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples can be mailed at ambient temperature.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Lysosomal Storage Disease Enzyme Panel (DBS),Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease NGS Panel,Neurological Enzyme Panel,Niemann-Pick Disease A/B: SMPD1 Sequencing,,,,,,,,,,,,,,,,

Niemann-Pick Disease A/B: SMPD1 Sequencing

SMPD1 sequencing is a molecular test used to identify variants in the gene associated with Niemann-Pick A/B disease.

Niemann-Pick Disease A/B: SMPD1 Sequencing,SMPD1 sequencing is a molecular test used to identify variants in the gene associated with Niemann-Pick A/B disease.,81479,3 weeks,,,$800 ,Patients with Niemann-Pick disease type A typically present in early childhood with hepatosplenomegaly, failure to thrive, cherry red macular spot, pulmonary infiltration and significant neurologic degeneration. Patients with Niemann-Pick disease type B have a later age of onset and present with hepatosplenomagaly and pulmonary infiltration, but have a milder or absent neurological phenotype. Foam cells can be detected in the bone marrow of patients with both subtypes.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,This analysis includes full sequencing of the coding region of the SMPD1 gene. Greater than 95% of patients are expected to have a detectable sequence variant.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Lysosomal Storage Disease Enzyme Panel (DBS),Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease NGS Panel,Neurological Enzyme Panel,Niemann-Pick Disease A/B: Acid Sphingomyelinase Enzyme Analysis,,,,,,,,,,,,,,,,

Non-Syndromic Craniosynostosis (also Muenke): FGFR3 Targeted Analysis

FGFR3 Targeted analysis is a molecular test used to identify variants in the gene associated with Non-syndromic craniosynostosis (also Muenke).

Non-Syndromic Craniosynostosis (also Muenke): FGFR3 Targeted Analysis,FGFR3 Targeted analysis is a molecular test used to identify variants in the gene associated with Non-syndromic craniosynostosis (also Muenke).,81403,2 weeks,,,$350 ,,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger sequencing Please note FGFR3 testing is not offered as a panel. You must specify which condition is clinically suspected. Testing for each condition must be ordered individually and will be billed separately. If you request more than one test, please specify the order in which they should be run or if they should be run simultaneously.,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known or there are clinical features identified via ultrasound suggestive of a diagnosis in the fetus. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Achondroplasia: FGFR3 Targeted Analysis,Craniosynostosis NGS Panel,Crouzon with Acanthosis Nigricans: FGFR3 Targeted Analysis,Hypochondroplasia: FGFR3 Targeted Analysis,Thanatophoric Dysplasia Type I: FGFR3 Targeted Analysis,Thanatophoric Dysplasia Type II: FGFR3 Targeted Analysis,,,,,,,,,,,,,,,

Ocular Albinism & Hermansky-Pudlak Syndrome NGS Panel

This panel of 18 genes is intended for patients with a diagnosis or clinical suspicion of Ocular Albinism & Hermansky-Pudlak Syndrome and is performed by Next Generation Sequencing (NGS).

Ocular Albinism & Hermansky-Pudlak Syndrome NGS Panel,This panel of 18 genes is intended for patients with a diagnosis or clinical suspicion of Ocular Albinism & Hermansky-Pudlak Syndrome and is performed by Next Generation Sequencing (NGS).,81479,8 weeks,,,$3,000 ,This panel consists of 18 genes related the various types of Hermansky-Pudlak syndrome and ocular or oculocutaneous albinism. Primary features include hypopigmentation of the hair and skin, reduced pigmentation of the iris and retina, nystagmus, and associated visual impairment. In addition to the pigmentation findings, individuals with Hermanksy-Pudlak may also have bleeding abnormalities, pulmonary fibrosis, and immunodeficiency.,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,,CytoScan Xon Microarray: 2-10 Genes,Hermansky-Pudlak Syndrome & Pulmonary Fibrosis NGS Panel,QUICK Analysis,,,,,,,,,,,,,,,,,

Oligosaccharide Urine Analysis

The urine oligosaccharide analysis is a semi-quantitative test useful in screening for alpha mannosidosis, beta mannosidosis, fucosidosis, sialidosis, beta galactosidase deficiency, galactosialidosis, Sandhoff disease, and aspartylglucosaminuria.

Oligosaccharide Urine Analysis,The urine oligosaccharide analysis is a semi-quantitative test useful in screening for oligosacharidosis lysosomal storage disorders.,84377,3 weeks,,,$250 , Lysosomal storage disorders are a broad group of diseases composed of a variety of sub-groups of disorders, such as the mucopolysaccharidoses, the glycoproteinoses, and the sphingolipidoses. A lysosomal storage disease can present in a number of different ways. Infants or children may have growth failure, developmental regression, corneal or lens clouding, hepato- and/or splenomegaly, coarsening facial features and skeletal abnormalities. Some disorders are more likely to have a neurological presentation or present in adults. While a diverse group, different storage diseases may have similar clinical features, thus it may be necessary to measure a number of different enzyme activities prior to finding the one deficient in a particular patient.,This urine analysis is a good first tier screening test when a storage disorder is expected. Additional testing, such as enzyme analysis or molecular testing may be needed to confirm a diagnosis. ,Oligosaccharides are analyzed using liquid chromatography tandem mass spectrometry (LC-MS/MS). This new methodology improves the sensitivity and specificity of the test leading to fewer false positives. ,,Urine (3 ml minimum),Urine should be sent frozen on dry ice by courier or overnight delivery. Specimens may be brought by courier at ambient temperature if it can be delivered on the day of collection.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Alpha-mannosidosis: Alpha-mannosidase Enzyme Analysis,Alpha-mannosidosis: MAN2B1 Sequencing,Aspartylglucosaminuria: AGA Sequencing,Aspartylglucosaminuria: Aspartyglucosaminidase Enzyme Analysis,Beta-mannosidosis: Beta-mannosidase Enzyme Analysis,Beta-mannosidosis: MANBA Sequencing,Fucosidosis: Alpha-fucosidase Enzyme Analysis,Fucosidosis: FUCA1 Sequencing,Galactosialidosis: CTSA Sequencing,,,,Schindler/Kanzaki Disease: Alpha-N-Acetylgalactosaminidase Enzyme Analysis,Sialidosis: Alpha-Neuraminidase (Sialidase) Enzyme Analysis,Sialidosis: NEU1 Sequencing,,,,,,

Oligosaccharidoses Enzyme Panel

This panel of enzymes is intended for patients with a diagnosis or clinical suspicion of an oligosaccharidosis condition.

Oligosaccharidoses Enzyme Panel,This panel of enzymes is intended for patients with a diagnosis or clinical suspicion of an oligosaccharidosis condition and includes quantification of the activity of 6 or 7 enzymes, depending on the sample type. Enzyme analysis and demonstrating deficient activity is considered the gold-standard in diagnosing lysosomal storage disorders.,82657 x3,2 weeks,Alpha-fucosidase; Aspartyglucosaminidase (cannot be measured in fibroblasts); Beta-galactosidase; Beta-mannosidase; N-acetyl alpha galactosaminidase; Alpha-neuraminidase-sialidase (this enzyme only performed on fibroblasts),,$600 , Lysosomal storage disorders are a broad group of diseases composed of a variety of sub-groups of disorders, such as the mucopolysaccharidoses, the glycoproteinoses, and the sphingolipidoses. A lysosomal storage disease can present in a number of different ways. Infants or children may have growth failure, developmental regression, corneal or lens clouding, hepato- and/or splenomegaly, coarsening facial features and skeletal abnormalities. Some disorders are more likely to have a neurological presentation or present in adults. While a diverse group, different storage diseases may have similar clinical features, thus it may be necessary to measure a number of different enzyme activities prior to finding the one deficient in a particular patient.,Enzyme testing may be ordered as follow-up to abnormal urine screening or as a first tier testing. ,Assays for lysosomal enzymes will employ an artificial 4-methylumbelliferyl substrate and activity is measured using a fluorometer. These are quantitated assays and the units will vary among each enzyme.,,Enzyme activity can be measured in whole blood, leukocytes, or dried blood spots except for sialidosis which can only be performed in fibroblasts. Please note, if fibroblasts are received then aspartylglucosaminidase cannot be measured. Send 5-7 ml of whole blood in a green top (sodium heparin) tube or skin biopsy in culture media. ,Whole blood should be sent over overnight at ambient temperature. Do not freeze whole blood. Samples for enzyme analysis must arrive to the lab the next day. For dried blood spots, when sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Sample should be sent at ambient temperature. ,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Alpha-mannosidosis: Alpha-mannosidase Enzyme Analysis,Alpha-mannosidosis: MAN2B1 Sequencing,Aspartylglucosaminuria: Aspartyglucosaminidase Enzyme Analysis,Beta-mannosidosis: Beta-mannosidase Enzyme Analysis,Beta-mannosidosis: MANBA Sequencing,Fucosidosis: Alpha-fucosidase Enzyme Analysis,Fucosidosis: FUCA1 Sequencing,,,Oligosaccharide Urine Analysis,Schindler/Kanzaki Disease: Alpha-N-Acetylgalactosaminidase Enzyme Analysis,,,,,,,,,,

Optic Atrophy & Early Glaucoma NGS Panel

This panel of 34 genes intended for patients with a diagnosis or clinical suspicion of Optic Atrophy and Early Glaucoma and is performed by Next Generation Sequencing (NGS).

Optic Atrophy & Early Glaucoma NGS Panel,This panel of 34 genes intended for patients with a diagnosis or clinical suspicion of Optic Atrophy and Early Glaucoma and is performed by Next Generation Sequencing (NGS).,81479,8 weeks,,,$3,000 ,This panel consists of 34 genes related to a diverse group of conditions featuring optic atrophy and/or early glaucoma. ,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,CytoScan Xon Microarray: 2-10 Genes,Focused NGS – Panel,POLG1-Related Disorders: POLG1 Sequencing,QUICK Analysis,,,,,,,,,,,,,,,,,

Organic Acid Analysis

Urine organic acid analysis is general biochemical screen used to detect a variety of inborn errors of metabolism.

Ornithine Transcarbamylase Deficiency: OTC Sequencing

OTC sequencing is a molecular test used to identify variants in the gene associated with Ornithine transcarbamylase deficiency.

Ornithine Transcarbamylase Deficiency: OTC Sequencing,OTC sequencing is a molecular test used to identify variants in the gene associated with Ornithine transcarbamylase deficiency.,81405,6 weeks,,,$1,000 ,Biochemical abnormalities associated with OTC deficiency include hyperammonemia, low citrulline and arginine, and elevated urinary orotic acid. Since OTC is an X-linked disorder, male infants are primarily affected usually presenting in the first few days of life with lethargy, anorexia, seizures, neurologic posturing, abnormal breathing, and coma related to cerebral edema. Long-term prognosis depends on the initial duration of the hyperammonemia. About 15% of carrier females will develop hyperammonemia, which may or may not require chronic medical management.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,CytoScan Xon Microarray: Single Gene Analysis,Orotic Acid Analysis,,,,,,,,,,,,,,,,,,,

Orotic Acid Analysis

This biochemical analysis of orotic acid determination is useful in delineating the cause of hyperammonemia. Excessive amounts of orotic acid are usually found in OTC (ornithine transcarbamylase) deficiency, citrullinemia, and often in argininosuccinic aciduria.

Overgrowth/Macrocephaly NGS Panel

This panel of 16 genes intended for patients with a diagnosis of Overgrowth/Macrocephaly and is performed by Next Generation Sequencing (NGS).

Overgrowth/Macrocephaly NGS Panel,This panel of 16 genes intended for patients with a diagnosis of Overgrowth/Macrocephaly and is performed by Next Generation Sequencing (NGS).,81479,8 weeks,,,$3,000 ,This panel consists of 16 genes associated with various syndromic forms of overgrowth and macrocephaly due to germline mutations. Many of these disorders can present similarly making it difficult to pinpoint the specific diagnosis. Overgrowth may be present in neonates at birth or develop at a later age. In some cases, the patient’s growth may normalize as they get older. Additional features for many of the conditions on the panel include intellectual disability, congenital anomalies, or an increased risk for tumors. ,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Beckwith-Wiedemann Syndrome Methylation-Specific MLPA,Beckwith-Wiedemann Syndrome (BWS): CDKN1C Sequencing,Borjeson-Forssman-Lehmann Syndrome: PHF6 Sequencing,CytoScan Xon Microarray: 2-10 Genes,Focused NGS – Panel,GLI3-Related Disorders: GLI3 Sequencing,PTEN-Related Disorders: PTEN Sequencing,QUICK Analysis,Sotos Syndrome: NSD1 Sequencing,,,,,,,,,,,,

Pelizaeus-Merzbacher Disease, Spastic Paraplegia: PLP1 Deletion/Duplication MLPA

PLP1 Deletion/Duplication (MLPA) is a molecular test used to detect deletions and duplications in the gene associated with Pelizaeus-Merzbacher Disease, Spastic Paraplegia.

Pelizaeus-Merzbacher Disease, Spastic Paraplegia: PLP1 Deletion/Duplication MLPA,PLP1 Deletion/Duplication (MLPA) is a molecular test used to detect deletions and duplications in the gene associated with Pelizaeus-Merzbacher Disease, Spastic Paraplegia.,81404,2 weeks,,,$500 ,Pelizaeus-Merzbacher is an X-linked hypomyelinative leukodystrophy and progressive neurologic condition presenting in infancy. Typical findings include abnormal eye movement, hypotonia, head tremor, ataxia, spasticity, quadri- and paraplegia, involuntary movements and cognitive deficiencies. Carrier females are usually asymptomatic or may have mild neurologic findings in adulthood, but some severely affected females have been reported as well.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,multiplex ligation-dependent probe amplification (MLPA),Sequencing of the PLP1 gene will detect a mutation in approximately 15-25% of affected males. 50-60% of males will have dosage alterations detected by MLPA anlaysis. The majority of these are duplications rather than deletions.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Hereditary Spastic Paraplegia NGS Panel,Pelizaeus-Merzbacher Disease, Spastic Paraplegia: PLP1 Sequencing,X-Linked Intellectual Disability (XLID) NGS Panel,,,,,,,,,,,,,,,,,,

Pelizaeus-Merzbacher Disease, Spastic Paraplegia: PLP1 Sequencing

PLP1 sequencing is a molecular test used to identify variants in the gene associated with Pelizaeus-Merzbacher Disease, Spastic Paraplegia.

Pelizaeus-Merzbacher Disease, Spastic Paraplegia: PLP1 Sequencing,PLP1 sequencing is a molecular test used to identify variants in the gene associated with Pelizaeus-Merzbacher Disease, Spastic Paraplegia.,81405,6 weeks,,,$700 ,Pelizaeus-Merzbacher is an X-linked hypomyelinative leukodystrophy and progressive neurologic condition presenting in infancy. Typical findings include abnormal eye movement, hypotonia, head tremor, ataxia, spasticity, quadri- and paraplegia, involuntary movements and cognitive deficiencies. Carrier females are usually asymptomatic or may have mild neurologic findings in adulthood, but some severely affected females have been reported as well.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,Sequencing of the PLP1 gene will detect a mutation in approximately 15-25% of affected males. 50-60% of males will have dosage alterations detected by MLPA anlaysis. The majority of these are duplications rather than deletions.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Hereditary Spastic Paraplegia NGS Panel,Pelizaeus-Merzbacher Disease, Spastic Paraplegia: PLP1 Deletion/Duplication MLPA,X-Linked Intellectual Disability (XLID) NGS Panel,,,,,,,,,,,,,,,,,,

Peroxisomal Biogenesis Disorders NGS Panel

This panel of 11 genes intended for patients with a diagnosis or clinical suspicion of Peroxisomal Biogenesis Disorders and is performed by Next Generation Sequencing (NGS).

Peroxisomal Biogenesis Disorders NGS Panel,This panel of 12 genes intended for patients with a diagnosis or clinical suspicion of Peroxisomal Biogenesis Disorders and is performed by Next Generation Sequencing (NGS).,81479,5 weeks,,,$2,500 ,Peroxisome biogenesis disorders are a result of peroxisomal fatty acid metabolism defect and constitute a spectrum of three phenotypes, Zellweger sydnrome, Neonatal adrenoleukodystrophy, and Infantile Refsum disease. Zellweger syndrome is the most severe and presents in the neonatal period with hypotonia, seizures, inability to feed, characteristic facies, liver dysfunction, and specific skeletal findings. These infants typically die within the first year of life. Infantile Refsum disease, the least severe form, and neonatal adrenoleukodystrophy generally present later in infancy or early childhood. Vision loss due to retinal dystrophy, sensorineural hearing loss, hypotonia, developmental delay, and episodes of hemorrhage or intracranial bleeding are all common features in later presentations. Older children will typically have a slowly progressive disease.,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,CytoScan Xon Microarray: 2-10 Genes,Focused NGS – Panel,Lysosomal Storage Disease NGS Panel,QUICK Analysis,,,,,,,,,,,,,,,,,

Phenylketonuria: PAH Sequencing

PAH sequencing is a molecular test used to identify variants in the gene associated with Phenylketonuria.

Pompe Disease, Glycogen Storage Disease Type II: Alpha-glucosidase Enzyme Analysis

This biochemical analysis of Alpha-glucosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Glycogen Storage Disease Type II, Pompe disease. In addition, it can be used to clarify molecular findings in the GAA gene, and to follow up abnormal newborn screening results.

Pompe Disease, Glycogen Storage Disease Type II: Alpha-glucosidase Enzyme Analysis,This biochemical test is a quantitative measurement of alpha-glucosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Glycogen Storage Disease Type II, Pompe disease. Demonstration of deficient alpha-glucosidase enzyme activity is considered the gold standard to confirm a diagnosis of Glycogen Storage Disease Type II, Pompe disease. In addition, it can be used to clarify molecular findings in the GAA gene, and to follow up abnormal newborn screening results.,82657,2 weeks,Alpha-glucosidase,,$200 ,Pompe disease is caused by a deficiency of the enzyme alpha-glucosidase (GAA), an enzyme that at normal levels will breakdown glycogen in the body. Infantile-onset Pompe disease is characterized by hypotonia, generalized muscle weakness and hypertrophic cardiomyopathy. Death generally occurs within the first year of life due to cardiac and respiratory failure. The later-onset form shows greater variability with a slowly progressive muscle weakness and respiratory insufficiency. The degree of enzyme deficiency is generally related to the severity and age of onset., This test can be used to confirm a suspected Pompe disease diagnosis. Prenatal diagnosis and carrier testing via enzyme analysis are not available.,4-methylumbelliferyl substrate,,Enzyme activity can be measured in leukocytes, cultured fibroblasts, or dried blood spots. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. For dried blood spot collection, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions. ,Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory the next day. Cultured fibroblasts can be sent overnight at room temperature. For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Ship at ambient temperature.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Pompe Disease, Glycogen Storage Disease Type II: GAA Sequencing,Pompe Disease, Glycogen Storage Disease Type II: Glucose Tetrasaccharide (Glc4) Urine Monitoring,Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease Enzyme Panel (DBS),Pompe Disease, Glycogen Storage Disease Type II: GAA Deletion/Duplication MLPA,,,,,,,,,,,,,,,,

Pompe Disease, Glycogen Storage Disease Type II: GAA Sequencing

GAA sequencing is a molecular test used to identify variants in the gene associated with Glycogen Storage Disease Type II, Pompe disease.

Pompe Disease, Glycogen Storage Disease Type II: GAA Sequencing,GAA sequencing is a molecular test used to identify variants in the gene associated with Glycogen Storage Disease Type II, Pompe disease.,81406,3 weeks,,,$1,000 ,Pompe disease is caused by a deficiency of the enzyme alpha-glucosidase (GAA), an enzyme that at normal levels will breakdown glycogen in the body. Infantile-onset Pompe disease is characterized by hypotonia, generalized muscle weakness and hypertrophic cardiomyopathy. Death generally occurs within the first year of life due to cardiac and respiratory failure. The later-onset form shows greater variability with a slowly progressive muscle weakness and respiratory insufficiency. The degree of enzyme deficiency is generally related to the severity and age of onset.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Pompe Disease, Glycogen Storage Disease Type II: Alpha-glucosidase Enzyme Analysis,Pompe Disease, Glycogen Storage Disease Type II: Glucose Tetrasaccharide (Glc4) Urine Monitoring,Whole-Genome SNP Microarray: Cytoscan Dx (FDA Cleared) Microarray,Rhabdomyolysis & Metabolic Myopathies NGS Panel,Neuromuscular Disorders NGS Panel,Comprehensive Cardiac NGS Panel,Pompe Disease, Glycogen Storage Disease Type II: GAA Sequencing,,,,,,,,,,,,,,

Pompe Disease, Glycogen Storage Disease Type II: Glucose Tetrasaccharide (Glc4) Urine Monitoring

The biochemical analysis of glucose tetrasaccharide (Glc4) in urine can be used to evaluate the clearance of glycogen from cells and monitor the effectiveness of enzyme replacement therapy in patients affected by Pompe disease.

Pompe Disease, Glycogen Storage Disease Type II: Glucose Tetrasaccharide (Glc4) Urine Monitoring,Pompe disease is caused by a deficiency of the enzyme alpha-glucosidase (GAA), an enzyme that at normal levels will break down glycogen in the body. Infantile-onset Pompe disease is characterized by hypotonia, generalized muscle weakness and hypertrophic cardiomyopathy. Death generally occurs within the first year of life due to cardiac and respiratory failure. The later-onset form shows greater variability with a slowly progressive muscle weakness and respiratory insufficiency. The degree of enzyme deficiency is generally related to the severity and age of onset. Glucose tetrasaccharide, also known as Glc4 or Hex4, is used as a biomarker to evaluate the clearance of glycogen from cells. Analysis of glucose tetrasaccharide in urine can be used to monitor the effectiveness of enzyme replacement therapy.,82570 & 83789,10 days,,,$202 ,Pompe disease is caused by a deficiency of the enzyme alpha-glucosidase (GAA), an enzyme that at normal levels will breakdown glycogen in the body. Infantile-onset Pompe disease is characterized by hypotonia, generalized muscle weakness and hypertrophic cardiomyopathy. Death generally occurs within the first year of life due to cardiac and respiratory failure. The later-onset form shows greater variability with a slowly progressive muscle weakness and respiratory insufficiency. The degree of enzyme deficiency is generally related to the severity and age of onset., Biomarker analysis of Glc4 can be used to monitor disease progression for affected individuals including those receiving enzyme replacement therapy.,Liquid chromatography-tandem mass spectrometry.,,At least 3 ml of a random catch sample of urine is needed for Pompe disease monitoring.,Urine samples should be frozen after collection. Samples must be sent frozen via overnight delivery or courier, preferably on dry ice.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Pompe Disease, Glycogen Storage Disease Type II: Alpha-glucosidase Enzyme Analysis,Pompe Disease, Glycogen Storage Disease Type II: GAA Sequencing,Pompe Disease, Glycogen Storage Disease Type II: GAA Deletion/Duplication MLPA,,,,,,,,,,,,,,,,,,

Prader-Willi Syndrome: (15q11q13) FISH Analysis

This cytogenetic FISH analysis for Prader-Willi syndrome (15q11q13) is useful when a specific numerical or structural abnormality or microdeletion is suspected.

Prader-Willi Syndrome: (15q11q13) FISH Analysis,This cytogenetic FISH analysis for Prader-Willi syndrome (15q11q13)is useful when a specific numerical or structural abnormality or microdeletion is suspected. FISH is also utilized to confirm microdeletions identified during high resolution chromosome analysis and to aid in identification of abnormal chromosomes. .,88275, 88273, 88271, 88291,4 weeks,,15q11q13,$584 ,Prader-Willi syndrome is characterized by significant infantile hypotonia and feeding difficulties. In early childhood this transitions into excessive eating and morbid obesity. Developmental delay and behavioral problems are common features. Physical characteristics include hypogonadism, short stature, small hands and feet, almond shaped eyes, and hypopigmentation. Prader-Willi syndrome is caused by the lack of expression of the paternally derived region of chromosome 15 (15q11.2-q13). This lack of expression can be caused by a deletion of the paternal chromosome, maternal uniparental disomy (UPD) of chromosome 15 or more rarely, a defect in the imprinting region. Angelman syndrome is characterized by significant developmental delay or intellectual disability, severe speech impairment, an ataxic gait, and inappropriate happy behavior including excessive laughing and smiling. Other physical concerns include microcephaly, seizures, wide mouth and a prominent mandible. ,Fluorescence in situ hybridization is a molecular cytogenetic technique in which fluorescently labeled DNA probes are hybridized to metaphase spreads or interphase nuclei. Applications include identification of structurally abnormal chromosomes, including identification of marker chromosomes, detection of very small deletions (microdeletions), and rapid detection of Down syndrome and other numerical chromosome abnormalities; and the rapid detection of sex chromosomes and the SRY gene. FISH should be used in conjunction with G-banded chromosome analysis. FISH is performed upon request when a specific numerical or structural abnormality or microdeletion is suspected. FISH is also utilized to confirm microdeletions identified during high resolution chromosome analysis and to aid in identification of abnormal chromosomes.,,,FISH can be performed on any specimen that can be cultured for chromosome analysis. This includes blood in a green top (sodium heparin) tube, tissue, amniotic fluid, and chorionic villus sampling (CVS). Follow collection and transport guidelines specific for each tissue type. Studies requested should be indicated at the time of sample submission. Prenatal testing will be considered on a case-by-case basis as the lab would like to ensure there is an appropriate indication before accepting a prenatal specimen for testing. Appropriate indications include abnormal ultrasound findings, abnormal NIPT result, and/or family history with a known/identified genetic etiology. Contact the laboratory prior to sending a prenatal specimen to discuss your case with a lab genetic counselor. ,Will vary depending on sample type: Blood: Specimen should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day. Amniotic Fluid and CVS: Specimen should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day. Solid Tissue(such as skin biopsy, products of conception, or fetal tissue): Specimen should be kept at room temperature if it will be transported immediately. If specimen is not being immediately transported to the laboratory, it may be refrigerated; do not freeze. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day.,Considered on a case-by-case basis. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for most prenatal testing. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/Test-finder-forms/GGC-Cytogenetic-Requisition.pdf,Angelman Syndrome Methylation-Specific MLPA,Whole-Genome SNP Microarray: Cytoscan HD Microarray,Whole-Genome SNP Microarray: Cytoscan Dx (FDA Cleared) Microarray,,,,,,,,,,,,,,,,,,

Pregnancy Loss Microarray

The pregnancy loss microarray is performed using either Affymetrix CytoScan HD or OncoScan. This analysis can detect abnormalities such as aneuploidy, mosaicism as low as 20%, common microdeletion and microduplication syndromes, interstitial and terminal chromosome deletions and duplications greater than >300 kb, and loss of heterozygosity and suspected uniparental disomy (UPD).

Pregnancy Loss Microarray,The pregnancy loss microarray is performed using either Affymetrix CytoScan HD or OncoScan. This analysis can detect abnormalities such as aneuploidy, mosaicism as low as 20%, common microdeletion and microduplication syndromes, interstitial and terminal chromosome deletions and duplications greater than >300 kb, and loss of heterozygosity and suspected uniparental disomy (UPD).,81229,26 days,,,$1,950 ,Pregnancy loss occurs in up to 15% of all recognized pregnancies. In approximately half of these cases, the loss can be attributed to the presence of one or more chromosome abnormalities. The pregnancy loss microarray is performed using either Affymetrix CytoScan HD or OncoScan, and the appropriate platform will be determined by sample type and condition. This analysis can detect the following abnormalities: Aneuploidy Mosaicism as low as 20% Common microdeletion and microduplication syndromes Interstitial and terminal chromosome deletions and duplications greater than >300 kb Loss of heterozygosity and suspected uniparental disomy (UPD) If a maternal sample is also sent to the laboratory, maternal cell contamination can be detected, and the parent of origin for uniparental isodisomy can be determined.,Pregnancy loss microarray can be performed on fetal samples following miscarriage, fetal demise, or stillbirth.,,,Fresh tissue (fetal tissue, amnion, placenta) Cultured cells Formalin fixed paraffin embedded (FFPE) Products of Conception should be placed in a sterile container for transport. The specimen must be kept moist, so add tissue culture media or sterile saline if needed. Fresh tissue: Using sterile technique, obtain a 5 mm biopsy of unmacerated fetal tissue and place in tube containing transport media. If tissue culture media is not available, sterile solutions such as balanced salt solution may be used. The preferred placental tissues are fetal membranes or chorionic villi. If fetal samples are obtained at autopsy, lung, gonad or thymus are preferred for chromosome study. Cultured tissue: 2-T25 confluent flasks can be sent for analysis. Extracted DNA is also accepted for this test. Please note that a maternal sample (4-5 ml of blood collected in a lavender-top/EDTA tube) is strongly recommended to rule out the presence of maternal cell contamination in POC samples. Additional specimen types include: saliva and extracted DNA. An additional charge ($350) will apply.,The specimen should be kept at room temperature and delivered via overnight shipping. Do not freeze.,,https://ggc.org/wp-content/uploads/pdf/Test-finder-forms/GGC-Cytogenetic-Requisition.pdf,Whole-Genome SNP Microarray: Cytoscan HD Microarray,,,,,,,,,,,,,,,,,,,,

Prenatal Microarray

This whole genome SNP microarray detects CNVs and allows for the analysis of loss of heterozygosity which can be useful in identifying uniparental disomy (UPD). Prenatal microarray can be used in cases of fetal anomalies and/or a suspected deletion/duplication syndrome.

Prenatal Microarray,This whole genome SNP microarray detects CNVs and allows for the analysis of loss of heterozygosity which can be useful in identifying uniparental disomy (UPD). Prenatal microarray can be used in cases of fetal anomalies and/or a suspected deletion/duplication syndrome.,81229,2 weeks from sample receipt. Cell culture, if needed, takes 1-4 weeks and may lengthen turnaround time.,,,$2,450.00 ,This thorough analysis of regions throughout the genome may identify the causes of numerous genetic conditions and cases of unexplained intellectual disabilities or other anomalies. This SNP array also allows for the analysis of loss of heterozygosity which can be useful in identifying uniparental disomy (UPD) as well as autozygosity (identity by descent). This array features over 1.8 million markers of genetic variation. There are over 946,000 nonpolymorphic probes for copy number detection including 202K probes for targeting 5677 known CNV regions as well as 744K probes tiled evenly along the genome. In addition, there are more than 906,600 SNPs comprise of an unbiased selection of 482,000 SNPs and specific selection of 424,000 SNPs. Areas of homozygosity (AOH) or loss of heterozygosity (LOH) will be reported When the total autosomal homozyogosity is >10% When an isolated LOH/AOH of at least 10 Mb is found on imprinted chromosome or when an isolated LOH/AOH of at least 15 Mb is found on a non-imprinted chromosome. The following findings WILL NOT be reported for prenatal specimens: CNVs associated with adult onset disorders This group of specific CNVs: Deletions associated with infertility involving the AZF loci in males Deletions and duplications of the BP1-BP2 region at 15q11.2 Duplications of the NPHP1 locus at 2q13 Focal duplications involving the STS gene in males and females Duplications involving the PAR1/SHOX region on Xp/Yp Duplications of the recurrent 16p13.11 region Deletions/duplications of 17p12/PMP22 associated with HNLPP and Charcot-Marie-Tooth, respectively ,Prenatal microarray may be indicated in the presence of multiple fetal anomalies or other unexplained ultrasound findings.,,,This test can be performed from direct amniotic fluid or on cultured amniocytes as well as chorionic villus sample (CVS). If sending direct fluid for microarray only, 10-20 ml of amniotic fluid is requested. Chromosomes and FISH will require an additional 10-15 ml of fluid. If sending cultured flasks, 2x T25 confluent flasks are required. Parental samples are required to accompany prenatal specimen. 4-5 ml of peripheral blood should be collected on each parent in an EDTA (lavender top) tube. Additional specimen types include: saliva and extracted DNA. ,The specimen should be kept at room temperature and delivered via overnight shipping. Do not freeze.,Prenatal diagnosis is available for cases of congenital anomalies or other clinical findings suggestive of aneuploidy.,https://ggc.org/wp-content/uploads/pdf/Test-finder-forms/GGC-Cytogenetic-Requisition.pdf,Pregnancy Loss Microarray,Whole-Genome SNP Microarray: Cytoscan HD Microarray,,,,,,,,,,,,,,,,,,,

Primary Carnitine Deficiency, Systemic: SLC22A5 Sequencing

SLC22A5 sequencing is a molecular test used to identify variants in the gene associated with Primary Carnitine Deficiency, systemic.

Primary Carnitine Deficiency, Systemic: SLC22A5 Sequencing,SLC22A5 sequencing is a molecular test used to identify variants in the gene associated with Primary Carnitine Deficiency, systemic.,81405,2 weeks,,,$1,000.00 ,Primary carnitine deficiency is an autosomal recessive disorder resulting from impaired carnitine transport and primarily affects skeletal and cardiac muscle. Muscle weakness and hypertrophic cardiomyopathy are common manifestations. Patients may also present with an acute illness or have recurring episodes of illness which can include hypoglycemia and lethargy as well as hepatic and renal dysfunction. Individuals with mutations in SLC22A5 will usually have biochemical findings of low plasma carnitine and elevated urine carnitine. Systemic primary carnitine deficiency is effectively treated with dietary supplementation of carnitine., Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,,,,,,,,,,,,,,,,,,,,,

Primary Ciliary Dyskinesia & Cystic Fibrosis NGS Panel

This panel of 42 genes intended for patients with a diagnosis or clinical suspicion of Primary Ciliary Dyskinesia and Cystic Fibrosis and is performed by next generation sequencing.

Primary Ciliary Dyskinesia & Cystic Fibrosis NGS Panel,This panel of 42 genes intended for patients with a diagnosis or clinical suspicion of Primary Ciliary Dyskinesia and Cystic Fibrosis and is performed by next generation sequencing.,81479,8 weeks,,,$3,000 ,,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. Novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Comprehensive Pulmonary NGS Panel,Cystic Fibrosis: CFTR Sequencing,CytoScan Xon Microarray: 2-10 Genes,Focused NGS – Panel,QUICK Analysis,,,,,,,,,,,,,,,,

Prothrombin 20210A: F2 Targeted Analysis

F2 targeted analysis is a molecular test used to identify the common 20210G>A variant in the gene associated with Prothrombin.

Prothrombin 20210A: F2 Targeted Analysis,F2 targeted analysis is a molecular test used to identify the common 20210G>A variant in the gene associated with Prothrombin.,81240,1 week,,,$150 ,Two mutations within genes in the blood coagulation pathway that have been implicated as significant factors for thrombotic risk. These two defects, factor V Leiden and prothrombin 20210A, are responsible for over 60% of all cases of inherited thrombophilia. In addition to being significant risk factors for hypercoagulation, the mutations are frequently found in, but are not limited to, people of European descent. Carriers of the Leiden R506Q mutation have an 8 fold increased risk for venous thrombosis and homozygotes have a 91 fold increased risk. Specific acquired or environmental factors may dramatically increase this baseline risk. Approximately 5% percent of the Caucasian population carries the Factor V Leiden mutation. Three percent of the Caucasian population carries the prothrombin mutation. The molecular diagnosis of these mutations is done with the polymerase chain reaction and restriction endonuclease digestion or allele specific oligonucleotide amplification.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family.,,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Factor V Leiden Thrombophilia: F5 Targeted Analysis,,,,,,,,,,,,,,,,,,,,

PTEN-Related Disorders: PTEN Deletion/Duplication MLPA

PTEN Deletion/Duplication (MLPA) is a molecular test used to detect deletions and duplications in the gene associated with PTEN-related disorders including Cowden syndrome and Bannayan-Riley Ruvalcaba syndrome.

PTEN-Related Disorders: PTEN Deletion/Duplication MLPA,PTEN Deletion/Duplication (MLPA) is a molecular test used to detect deletions and duplications in the gene associated with PTEN-related disorders including Cowden syndrome and Bannayan-Riley Ruvalcaba syndrome.,81323,2 weeks,,,$500 ,PTEN mutations are associated with autism/macrocephaly and PTEN-related hamartoma tumor syndromes.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,, Sequencing of the PTEN gene can detect mutations in: 20% of individuals with autism and macrocephaly 80% of individuals who meet the diagnostic criteria for Cowden syndrome 60% of individuals with a clinical diagnosis of Bannayan-Riley-Ruvalcaba syndrome 50% of individuals with Proteus-like syndrome ,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Brain Tumor : PTEN Deletion Analysis,Lung Adenocarcinoma : PTEN Mutation Analysis,PTEN-Related Disorders: PTEN Sequencing,PTEN-Related Disorders: PTEN Targeted Analysis,Overgrowth/Macrocephaly NGS Panel,Syndromic Autism NGS Panel,,,,,,,,,,,,,,,

PTEN-Related Disorders: PTEN Sequencing

PTEN sequencing is a molecular test used to identify variants in the gene associated with PTEN-related disorders including Cowden syndrome and Bannayan-Riley Ruvalcaba syndrome.

PTEN-Related Disorders: PTEN Sequencing,PTEN sequencing is a molecular test used to identify variants in the gene associated with PTEN-related disorders including Cowden syndrome and Bannayan-Riley Ruvalcaba syndrome..,81321,6 weeks,,,$1,200 ,PTEN mutations are associated with autism/macrocephaly and PTEN-related hamartoma tumor syndromes.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing, Sequencing of the PTEN gene can detect mutations in: 20% of individuals with autism and macrocephaly 80% of individuals who meet the diagnostic criteria for Cowden syndrome 60% of individuals with a clinical diagnosis of Bannayan-Riley-Ruvalcaba syndrome 50% of individuals with Proteus-like syndrome ,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Brain Tumor : PTEN Deletion Analysis,Lung Adenocarcinoma : PTEN Mutation Analysis,PTEN-Related Disorders: PTEN Deletion/Duplication MLPA,PTEN-Related Disorders: PTEN Targeted Analysis,Overgrowth/Macrocephaly NGS Panel,Syndromic Autism NGS Panel,,,,,,,,,,,,,,,

PTEN-Related Disorders: PTEN Targeted Analysis

PTEN targeted analysis is a molecular test used to identify known variants in the gene associated with PTEN-related disorders.

PTEN-Related Disorders: PTEN Targeted Analysis,PTEN targeted analysis is a molecular test used to identify known variants in the gene associated with PTEN-related disorders.,81322,2 weeks,,,$350 ,PTEN mutations are associated with autism/macrocephaly and PTEN-related hamartoma tumor syndromes.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,, Sequencing of the PTEN gene can detect mutations in: 20% of individuals with autism and macrocephaly 80% of individuals who meet the diagnostic criteria for Cowden syndrome 60% of individuals with a clinical diagnosis of Bannayan-Riley-Ruvalcaba syndrome 50% of individuals with Proteus-like syndrome ,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Brain Tumor : PTEN Deletion Analysis,Lung Adenocarcinoma : PTEN Mutation Analysis,Overgrowth/Macrocephaly NGS Panel,PTEN-Related Disorders: PTEN Deletion/Duplication MLPA,PTEN-Related Disorders: PTEN Sequencing,,,,,,,,,,,,,,,,

PTPN11-Related Disorders: PTPN11 Sequencing

PTPN11 sequencing is a molecular test used to identify variants in the gene associated with PTPN11- related disorders including Noonan syndrome and LEOPARD syndrome.

Pulmonary Arterial Hypertension NGS Panel

This panel of 22 genes is intended for patients with a diagnosis or clinical suspicion of Pulmonary Arterial Hypertension and is performed by next generation sequencing.

Pulmonary Arterial Hypertension NGS Panel,This panel of 22 genes is intended for patients with a diagnosis or clinical suspicion of Pulmonary Arterial Hypertension and is performed by next generation sequencing.,81479,8 weeks,,,$3,000 ,,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of the pulmonary arterial hypertension panel covers the coding region for all 20 genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Comprehensive Pulmonary NGS Panel,CytoScan Xon Microarray: Single Gene Analysis,CytoScan Xon Microarray: More than 10 Genes,Focused NGS – Panel,QUICK Analysis,,,,,,,,,,,,,,,,

RASopathy NGS Panel

This panel of 23 genes intended for patients with a diagnosis or clinical suspicion of a RASopathy syndrome including Noonan, Cardio-facio-cutaneous, Costello, and Leopard syndromes and is performed by Next Generation Sequencing (NGS).

RASopathy NGS Panel,This panel of 23 genes intended for patients with a diagnosis or clinical suspicion of a RASopathy syndrome including Noonan, Cardio-facio-cutaneous, Costello, and Leopard syndromes and is performed by Next Generation Sequencing (NGS).,81442,8 weeks,,,$3,000 ,This panel consists of 23 genes associated with various RASopathy disorders. Multisystem effects of alterations in the RAS-MAPK pathway lead to physiological and anatomical abnormalities including dysmorphic features, heart defects, short stature, skin lesions, and intellectual disability. Conditions associated with mutations in the RAS-MAPK pathway include: Cardio-facio-cutaneous syndrome – Features of CFC syndrome include macrocephaly, cardiac abnormalities, short neck, ectodermal changes, and variable degrees of intellectual disability. Costello syndrome – This condition is characterized by intellectual disability, failure to thrive, coarse facial features, loose skin, hyperextensibility, short stature, and heart defects. Papillomatous skin lesions in the oral, nasal, and anal regions are common. LEOPARD syndrome – This disorder, also known as multiple lentigines syndrome, involves lentigines (pigmented skin lesions), cardiac rhythm abnormalities, hypertelorism, pulmonic stenosis, growth retardation, and deafness. Intellectual disability is common. Noonan syndrome – Features of Noonan syndrome include short stature, a broad or webbed neck, low-set nipples, heart defects, and mild intellectual disability in approximately 1/3 of patients. Neurofibromatosis – Individuals with Neurofibromatosis 1 (NF1) have two or more of the following findings: six or more cafe au laits spots, two or more neurofibromas or one plexiform neuroma, axial or inguinal freckling, Lisch nodules, optic glioma, specific skeletal findings, or an affected first-degree relative. This condition is relatively common, and it demonstrates a wide range of expressivity, even within the same family. Neurofibromatosis 2 (NF2) is a rare disorder characterized by acoustic neuromas and vestibular schwannomas that may affect hearing and balance. New mutations are responsible for approximately half of all cases. Schwannomatosis – This condition includes non-vestibular schwannomas that are often associated with significant degrees of pain. Scwhannomas may be widespread or limited to a specific area of the body. Legius syndrome – The phenotype of Legius syndrome may resemble that of Neurofibromatosis 1 with the exception of cafe au laits spots. Other dysmorphic features may or may not be present. This disorder is caused by mutations in SPRED1.,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,CytoScan Xon Microarray: 2-10 Genes,Focused NGS – Panel,PTPN11-Related Disorders: PTPN11 Sequencing,QUICK Analysis,,,,,,,,,,,,,,,,,

Retinitis Pigmentosa NGS Panel

This panel of 92 genes intended for patients with a diagnosis or clinical suspicion of Retinitis Pigmentosa.

Retinitis Pigmentosa NGS Panel,This panel of 92 genes intended for patients with a diagnosis or clinical suspicion of Retinitis Pigmentosa and is performed by Next Generation Sequencing (NGS). ,81434,8 weeks,,,$3,500 ,This panel consists of 92 genes associated with the various types of Retinitis Pigmentosa (RP), including syndromic and isolated forms of RP. RP is generally characterized by abnormalities in the photoreceptors leading to progressive visual loss. Night blindness is a common initial clinical manifestation. Depending on the stage of retinal deterioration, abnormalities of the fundus or other eye structures may be present upon exam. ,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,,CytoScan Xon Microarray: 2-10 Genes,Focused NGS – Panel,Neuronal Ceroid Lipofuscinosis 3, Batten Disease: CLN3 Sequencing,QUICK Analysis,,,,,,,,,,,,,,,,

Rett Syndrome: MECP2 Deletion/Duplication MLPA

MECP2 Deletion/Duplication (MLPA) is a molecular test used to detect copy number variants in the gene associated with Rett syndrome.

Rett Syndrome: MECP2 Deletion/Duplication MLPA,MECP2 Deletion/Duplication (MLPA) is a molecular test used to detect copy number variants in the gene associated with Rett syndrome.,81304,2 weeks,,,$500 ,A neurodevelopmental disorder that affects females, Rett syndrome is associated with cortical atrophy, stereotypical hand movements and severe intellectual disability. With an incidence of 1 in 10,000 – 15,000, it is one of the most common causes of intellectual disability in females. Rett syndrome is characterized by loss of acquired skills after a period of normal development in infancy. Most cases of Rett syndrome are caused by an abnormality (missense mutation, nonsense mutation or deletion) of MECP2. Additionally, a specific phenotype has been identified in males with a MECP2 duplication that is identifiable by MLPA. These males display hypotonia that progresses to spasticity, severe intellectual disability and recurrent pulmonary infections. Females in these families who have the duplication are clinically unaffected and display a near total skewing of X-inactivation. Sequencing of the MECP2 gene and MLPA deletion/duplication analysis can be ordered concurrently, sequentially or separately.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,multiplex ligation-dependent probe amplification (MLPA),Sequencing of the MECP2 gene will detect mutations in approximately 80% of individuals with Rett syndrome. Of those with a normal sequencing result, approximately 15% will have a deletion or duplication identified by MLPA.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Rett Syndrome: MECP2 Sequencing,Rett/Angelman Syndrome NGS Panel,,,,,,,,,,,,,,,,,,,

Rett Syndrome: MECP2 Sequencing

MECP2 sequencing is a molecular test used to identify variants in the gene associated with Rett syndrome.

Rett Syndrome: MECP2 Sequencing,MECP2 sequencing is a molecular test used to identify variants in the gene associated with Rett syndrome.,81302,3 weeks,,,$900 ,A neurodevelopmental disorder that affects females, Rett syndrome is associated with cortical atrophy, stereotypical hand movements and severe intellectual disability. With an incidence of 1 in 10,000 – 15,000, it is one of the most common causes of intellectual disability in females. Rett syndrome is characterized by loss of acquired skills after a period of normal development in infancy. Most cases of Rett syndrome are caused by an abnormality (missense mutation, nonsense mutation or deletion) of MECP2. Additionally, a specific phenotype has been identified in males with a MECP2 duplication that is identifiable by MLPA. These males display hypotonia that progresses to spasticity, severe intellectual disability and recurrent pulmonary infections. Females in these families who have the duplication are clinically unaffected and display a near total skewing of X-inactivation. Sequencing of the MECP2 gene and MLPA deletion/duplication analysis can be ordered concurrently, sequentially or separately., Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,Sequencing of the MECP2 gene will detect mutations in approximately 80% of individuals with Rett syndrome. Of those with a normal sequencing result, approximately 15% will have a deletion or duplication identified by MLPA.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Rett/Angelman Syndrome NGS Panel,Rett Syndrome: MECP2 Deletion/Duplication MLPA,Rett Syndrome: MECP2 Targeted Mutation Analysis,Syndromic Autism NGS Panel,X-Linked Intellectual Disability (XLID) NGS Panel,,,,,,,,,,,,,,,,

Rett Syndrome: MECP2 Targeted Mutation Analysis

MECP2 targeted mutation analysis is a molecular test used to identify known variants in the gene associated with Rett syndrome.

Rett Syndrome: MECP2 Targeted Mutation Analysis,MECP2 targeted mutation analysis is a molecular test used to identify known variants in the gene associated with Rett syndrome.,81303,2 weeks,,,$350 ,A neurodevelopmental disorder that affects females, Rett syndrome is associated with cortical atrophy, stereotypical hand movements and severe intellectual disability. With an incidence of 1 in 10,000 – 15,000, it is one of the most common causes of intellectual disability in females. Rett syndrome is characterized by loss of acquired skills after a period of normal development in infancy. Most cases of Rett syndrome are caused by an abnormality (missense mutation, nonsense mutation or deletion) of MECP2. Additionally, a specific phenotype has been identified in males with a MECP2 duplication that is identifiable by MLPA. These males display hypotonia that progresses to spasticity, severe intellectual disability and recurrent pulmonary infections. Females in these families who have the duplication are clinically unaffected and display a near total skewing of X-inactivation. Sequencing of the MECP2 gene and MLPA deletion/duplication analysis can be ordered concurrently, sequentially or separately., Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,, Sequencing of the MECP2 gene will detect mutations in approximately 80% of individuals with Rett syndrome. Of those with a normal sequencing result, approximately 15% will have a deletion or duplication identified by MLPA.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Rett/Angelman Syndrome NGS Panel,Rett Syndrome: MECP2 Deletion/Duplication MLPA,Rett Syndrome: MECP2 Sequencing,,,,,,,,,,,,,,,,,,

Rett/Angelman Syndrome NGS Panel

This panel of 21 genes intended for patients with a diagnosis or clinical suspicion of Rett/Angelman syndrome.

Rett/Angelman Syndrome NGS Panel,This panel of 21 genes intended for patients with a diagnosis or clinical suspicion of Rett/Angelman syndrome and is performed by Next Generation Sequencing (NGS).,81479,8 weeks,,,$3,000 ,Angelman and Rett syndromes are common genetic disorders that share many similar features,including developmental delay, intellectual disability and seizures. The genetic heterogeneity of these two syndromes and many similar disorders make it challenging to determine the appropriate second tier of testing once the most common causes of Rett and Angelman have been ruled out. Our expanded Rett/Angelman panel is designed to provide a cost-effective method for testing the genes believed to be of the highest diagnostic priority for individuals that fall into this clinical spectrum.,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Alpha-thalassemia X-Linked Intellectual Disability (XLID): ATR-X Sequencing,Angelman Syndrome Methylation-Specific MLPA,Angelman Syndrome: (15q11q13) FISH Analysis,Angelman Syndrome: UBE3A Sequencing,ARX-Related Spectrum of X-Linked Intellectual Disability (XLID): ARX Sequencing,CytoScan Xon Microarray: 2-10 Genes,Focused NGS – Panel,QUICK Analysis,Rett Syndrome: MECP2 Deletion/Duplication MLPA,Rett Syndrome: MECP2 Sequencing,Rett Syndrome: MECP2 Targeted Mutation Analysis,,,,,,,,,,

Rhabdomyolysis & Metabolic Myopathies NGS Panel

This panel of 47 genes intended for patients with a diagnosis or clinical suspicion of Rhabdomyolysis and Metabolic Myopathies.

Rhabdomyolysis & Metabolic Myopathies NGS Panel,This panel of 47 genes is intended for patients with a diagnosis or clinical suspicion of Rhabdomyolysis and Metabolic Myopathies.,81479,8 weeks,,,$3,000 ,This panel consists of 47 genes that may be considered in the evaluation of patients with elevated CK levels, muscle cramping and weakness, myoglobinuria, or rhabdomyolysis. The conditions included range in severity and include various forms of disorders of fatty acid and glycogen metabolism, mitochondrial disorders, muscular dystrophies, and others. Myopathic disorders presenting with leg cramps carry a risk of either rhabdomyolysis or progressive muscle weakness and can easily be missed Rhabdomyolysis results from the breakdown of skeletal muscle that may occur from a combination of environmental and genetic factors, and episodes can be triggered by a variety of factors. Initial symptoms may occur following strenuous exercise, infections, fasting, temperature extremes, or exposure to drugs or alcohol, and the signs of rhabdomyolysis include myoglobinuria, or darkened and discolored urine, that could lead to renal failure if left untreated. Some disorders that place individuals at risk for rhabdomyolysis are characterized by a “second-wind” phenomenon where initial exercise intolerance is overcome after a short period of rest. Susceptibility to malignant hyperthermia may also present with evidence of muscle breakdown after exposure to certain anesthetics, and this condition can be life-threatening without prompt recognition and treatment. List of Genes and Associated Clinical Phenotypes,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Prenatal diagnosis can also be requested when there are clincial features and ultrasound findings suggestive of a diagnosis. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Carnitine Palmitoyltransferase II Deficiency: CPT2 Sequencing,CytoScan Xon Microarray: 2-10 Genes,Duchenne/Becker Muscular Dystrophy: DMD Deletion/Duplication MLPA,Focused NGS – Panel,Pompe Disease, Glycogen Storage Disease Type II: GAA Sequencing,Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: ACADM Sequencing,Neuromuscular Disorders NGS Panel,POLG1-Related Disorders: POLG1 Sequencing,Very Long Chain Fatty Acid Deficiency: ACADVL Sequencing,,,,,,,,,,,,

Russell-Silver Syndrome Methylation-Specific MLPA

RSS Methylation-Specific MLPA is a molecular test used to detect copy number variants or methylation abnormalities associated with Russell-Silver syndrome (RSS).

Russell-Silver Syndrome Methylation-Specific MLPA,RSS Methylation-Specific MLPA is a molecular test used to detect copy number variants or methylation abnormalities associated with Russell-Silver syndrome (RSS).,81401,3 weeks,,,$600 ,Intrauterine growth restriction (IUGR) and postnatal growth deficiency are primary features of Russell-Silver syndrome. Individuals with RSS also commonly have developmental delay and characteristic triangular facies. These patients will not usually attain normal height or weight as adults. RSS is casued by alterations in methylation at 11p15.5 as well as by uniparental disomy of chromosome 7., Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,multiplex ligation-dependent probe amplification (MLPA), A methylation sensitive MLPA assay is used to determine methylation status at the two imprinting centers and to identify microdeletions or duplications. If an abnormal methylation pattern is identified, then pyrosequencing is performed to quantify the methylation at these sites. This testing will detect approximately 50% of cases of Russell-Silver syndrome. The majority of these cases have isolated imprinting defects while less than 1% have microdeletions or duplications.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Chromosome 7 UPD Analysis,,,,,,,,,,,,,,,,,,,,

Saethre-Chotzen Syndrome: TWIST1 Deletion/Duplication MLPA

TWIST1 Deletion/Duplication (MLPA) is a molecular test used to detect deletions and duplications in the gene associated with Saethre-Chotzen syndrome.

Saethre-Chotzen Syndrome: TWIST1 Deletion/Duplication MLPA,TWIST1 Deletion/Duplication (MLPA) is a molecular test used to detect deletions and duplications in the gene associated with Saethre-Chotzen syndrome.,81403,2 weeks,,,$500 ,Saethre-Chotzen Syndrome is one of the most common autosomal dominant disorders of craniosynostosis, affecting approximately 1/2000 newborn infants. It is characterized by craniofacial and limb anomalies. Mutations in the TWIST1 gene, which maps to chromosome 7p21-p22 are found in a majority of individuals with Saethre-Chotzen syndrome. Nonsense, missense, insertion, and deletion mutations of the TWIST1 gene have been found in studies of patients with Saethre-Chotzen syndrome., Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,multiplex ligation-dependent probe amplification (MLPA),Copy number variants in the TWIST1 gene are identified in approximately 25% of individuals with Saethre-Chotzen syndrome.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known or there are clinical features identified via ultrasound suggestive of a diagnosis in the fetus. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Craniosynostosis NGS Panel,Saethre-Chotzen Syndrome: TWIST1 Sequencing,,,,,,,,,,,,,,,,,,,

Saethre-Chotzen Syndrome: TWIST1 Sequencing

TWIST1 sequencing is a molecular test used to identify variants in the gene associated with Saethre-Chotzen syndrome.

Saethre-Chotzen Syndrome: TWIST1 Sequencing,TWIST1 sequencing is a molecular test used to identify variants in the gene associated with Saethre-Chotzen syndrome.,81404,2 weeks,,,$350 ,Saethre-Chotzen Syndrome is one of the most common autosomal dominant disorders of craniosynostosis, affecting approximately 1/2000 newborn infants. It is characterized by craniofacial and limb anomalies. Mutations in the TWIST1 gene, which maps to chromosome 7p21-p22 are found in a majority of individuals with Saethre-Chotzen syndrome. Nonsense, missense, insertion, and deletion mutations of the TWIST1 gene have been found in studies of patients with Saethre-Chotzen syndrome.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger sequencing, Sequencing of the gene will detect mutations in approximately 70% of individuals with Saethre-Chotzen syndrome.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known or there are clinical features identified via ultrasound suggestive of a diagnosis in the fetus. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Saethre-Chotzen Syndrome: TWIST1 Deletion/Duplication MLPA,,,,,,,,,,,,,,,,,,,,

Sandhoff Disease: HEXB Sequencing

HEXB sequencing is a molecular test used to identify variants in the gene associated with Sandhoff Disease.

Sandhoff Disease: HEXB Sequencing,HEXB sequencing is a molecular test used to identify variants in the gene associated with Sandhoff Disease.,81479,3 weeks,,,$900 , Sandhoff disease is an autosomal recessive lysosomal storage disorder caused by significantly reduced or absent activities of beta-hexosaminidase A and beta-hexosaminidase B. This deficiency results in accumulation of GM2 ganglioside which leads to the destruction of neurons in the brain and spinal cord. Infants with Sandhoff disease have normal developmental progress until the age of 3-6 months when developmental regression occurs. Features of this progressive condition include an increased startle reflex, a retinal cherry-red spot, seizures, vision and hearing loss, ataxia, and hepatoslenomegaly. Infantile Sandhoff disease typically results in death by age three. In rare cases, Sandhoff disease can occur with later onset, milder symptoms, and slower progression. Higher frequencies of Sandhoff disease have been reported among individuals with backgrounds including Northern Argentina Creole, the Metis population in Saskatchewan, and Lebanese descent., Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Tay-Sachs/Sandhoff Disease: Beta-hexosaminidase Enzyme Analysis,,,,,,,,,,,,,,,,,,,,

Schindler/Kanzaki Disease: Alpha-N-Acetylgalactosaminidase Enzyme Analysis

This biochemical analysis of N-acetyl-alpha galactosaminidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Schindler/Kanzaki Disease.

Schindler/Kanzaki Disease: Alpha-N-Acetylgalactosaminidase Enzyme Analysis,This biochemical test is a quantitative measurement of N-acetyl-alpha galactosaminidase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Schindler/Kanzaki disease. Demonstration of deficient N-acetyl-alpha galactosaminidase enzyme activity is considered the gold standard to confirm a diagnosis of Schindler/Kanzaki disease.,82657,2 weeks ,N-acetyl-alpha galactosaminidase,,$200 ,Schindler disease is a rare, autosomal recessive lysosomal storage disorder characterized by varying degrees of neurologic impairment. In the infantile form of Schindler disease (Type I), developmental regression becomes evident around the age of one in a previously healthy child. In addition to this rapid progression of intellectual disability, affected children develop optic atrophy leading to vision loss, spasticity, and seizures. Muscle atrophy and contractures may occur, and patients generally become unresponsive to their surroundings. Most affected individuals die in early childhood. Type II Schindler, also known as Kanzaki disease, is an adult-onset disorder associated with muscle weakness, hearing loss, mild intellectual changes, and angiokeratomas. An intermediate type may exist, and its features include developmental delays, seizures, cardiomyopathy, hepatomegaly, and behavioral changes.,This test can be used to confirm a suspected Schindler/Kanzaki disease diagnosis.,4-methylumbelliferyl substrate ,,Enzyme activity can be measured in plasma, leukocytes, cultured fibroblasts, or dried blood spots. For plasma or leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. Plasma can also be removed from spun down sample and sent frozen. For dried blood spot collection, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters).,Whole blood should be sent over overnight at ambient temperature. Plamsa can be removed once the sample has been drawn and sent frozen on dry ice. Do not freeze whole blood. Cultured fibroblasts can be sent overnight at room temperature. For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples should be placed in the mail within 24 hours of collection. Overnight shipping is preferred.,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,Lysosomal Storage Disease Enzyme Panel (DBS),Oligosaccharidoses Enzyme Panel,,,,,,,,,,,,,,,,,,,

Short-Chain Acyl-CoA Dehydrogenase Deficiency: ACADS Sequencing

ACADS sequencing is a molecular test used to identify variants in the gene associated with Short-Chain Acyl-CoA Dehydrogenase Deficiency.

Short-Chain Acyl-CoA Dehydrogenase Deficiency: ACADS Sequencing,ACADS sequencing is a molecular test used to identify variants in the gene associated with Short-Chain Acyl-CoA Dehydrogenase Deficiency.,81405,2 weeks,,,$1,000 , The short chain acyl CoA dehydrogenase catalyzes the dehydrogenation of acyl CoA esters with 4 to 6 carbons in length in the process of mitochondrial beta-oxidation of fatty acids. Mutations in the ACADS gene result in short chain acyl CoA dehydrogenase (SCAD) deficiency. This is an autosomal recessive disorder that can be asymptomatic, or could present with neurological features such as developmental delay, hypotonia, myopathy and seizures, as well as acidosis, failure to thrive, lethargy and behavior problems. The age of onset and severity of clinical features varies considerably., Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,Sequencing of the ACADS gene is expected to detect mutations in 99% or more patients with a biochemical diagnosis of SCAD deficiency.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,CytoScan Xon Microarray: Single Gene Analysis,,,,,,,,,,,,,,,,,,,,

Sialic Acid Analysis, Total and Free

Elevated free sialic acid in urine is associated with infantile sialic acid storage disease and Salla disease.

Sialidosis: Alpha-Neuraminidase (Sialidase) Enzyme Analysis

This biochemical analysis of alpha-neuraminidase-sialidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Sialidosis In addition, it can be used to clarify molecular findings in the NEU1 gene.

Sialidosis: Alpha-Neuraminidase (Sialidase) Enzyme Analysis,This biochemical test is a quantitative measurement of of alpha-neuraminidase-sialidase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of sialidosis. Demonstration of deficient alpha-neuraminidase-sialidase enzyme activity is considered the gold standard to confirm a diagnosis of sialidosis, or mucolipidosis type I. In addition, this assay can be used to clarify molecular findings in the NEU1 gene.,82657,2 weeks ,alpha-neuraminidase-sialidase,,$200 ,Sialidosis, also known as mucolipidosis type I, is among the rarest Lysosomal Storage Disorder (LSD) classified as part of the glycoproteinoses. There are two clinically distinct sub-types of sialidosis, type I and type II. The less severe form of the disorder, sialidosis type I, characterized by later onset, cherry red spots, progressive vision loss. These patients can also have other neurological symptoms such as ataxia and myoclonus, but typically have normal intelligence. Type II is the more severe form of sialidosis. These patients usually have more physical findings than patients with type I, such as short stature, coarse features, thoracic kyphosis, and hepatosplenomegaly. Similar to the milder type I patients, individuals with type II may also have the cherry red spot, ataxia, and myoclonus. However, additional neurological symptoms are likely to be present in patients with type II.,,4-methylumbelliferyl substrate,,Enzyme activity can only be measured in cultured fibroblasts. The lab will accept a tissue sample or cultured flasks of cells. A punch skin biopsy should collected and placed in sterile media or saline. Do NOT place tissue in formalin or formaldehyde. Do not freeze tissue. If sending cultured cells, send 2x T25 flasks. ,Fresh tissue or cultured fibroblasts can be sent overnight at room temperature. ,,https://ggc.org/wp-content/uploads/2020/12/Greenwood-Biochemical-Requisition.pdf,Hydrops Enzyme Panel,Non-Immune Hydrops NGS Panel,Lysosomal Storage Disease NGS Panel,Oligosaccharide Urine Analysis,Sialidosis: NEU1 Sequencing,,,,,,,,,,,,,,,,

Sialidosis: NEU1 Sequencing

NEU1 sequencing is a molecular test used to identify variants in the gene associated with Sialidosis .

Sialidosis: NEU1 Sequencing,NEU1 sequencing is a molecular test used to identify variants in the gene associated with Sialidosis .,81479,3 weeks,,,$800 , Sialidosis, also known as mucolipidosis type I, is among the rarest lysosomal disorders classified as part of the glycoproteinoses. There are two clinically distinct subtypes of sialidosis. The less severe form of the disorder, sialidosis type I, characterized by later onset, cherry red spots, progressive vision loss. These patients can also have other neurological symptoms such as ataxia and myoclonus, but typically have normal intelligence. Type II is the more severe form of sialidosis. These patients usually have more physical findings than patients with type I, such as short stature, coarse features, thoracic kyphosis, and hepatosplenomegaly. Similar to the milder type I patients, individuals with type II may also have the cherry red spot, ataxia, and myoclonus. However, additional neurological symptoms are likely to be present in patients with type II, Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Lysosomal Storage Disease NGS Panel,Oligosaccharide Urine Analysis,Sialidosis: Alpha-Neuraminidase (Sialidase) Enzyme Analysis,,,,,,,,,,,,,,,,,,

Skeletal Dysplasia NGS Panel

This panel of 11 genes is intended for patients with a diagnosis or clinical suspicion of skeletal dysplasia and is performed by Next Generation Sequencing (NGS).

Skeletal Dysplasia NGS Panel,This panel of 11 genes is intended for patients with a diagnosis or clinical suspicion of skeletal dysplasia and is performed by Next Generation Sequencing (NGS).,81479,5 weeks,,,$2,500 ,Skeletal dysplasias make up a large and diverse group of disorders. A diagnosis is often based on a combination of clinical, radiological, and molecular findings. There is a great deal of phenotypic overlap and genetic heterogeneity among skeletal dysplasias. The 11 genes included on this panel account for more than 30 distinct clinical phenotypes. ,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution Xon microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,This panel can be used for prenatal samples based on abnormal skeletal findings on ultrasound. If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Achondroplasia: FGFR3 Targeted Analysis,CytoScan Xon Microarray: 2-10 Genes,FLNA-Related Disorders: FLNA Sequencing,Focused NGS – Panel,Hypochondroplasia: FGFR3 Targeted Analysis,QUICK Analysis,Thanatophoric Dysplasia Type I: FGFR3 Targeted Analysis,Thanatophoric Dysplasia Type II: FGFR3 Targeted Analysis,,,,,,,,,,,,,

Sotos Syndrome: NSD1 Deletion/Duplication MLPA

NSD1 Deletion/Duplication (MLPA) is a molecular test used to detect copy number variants in the gene associated with Sotos syndrome.

Sotos Syndrome: NSD1 Deletion/Duplication MLPA,NSD1 Deletion/Duplication (MLPA) is a molecular test used to detect copy number variants in the gene associated with Sotos syndrome. Sequencing of the NSD1 gene and MLPA deletion/duplication analysis can be ordered concurrently, sequentially or separately.,81405,2 weeks,,,$500 ,Sotos syndrome is an autosomal dominant overgrowth condition due to mutations in the NSD1 gene, which has been localized to 5q35. Individuals present with a typical facial appearance, including a long narrow face and prominent narrow jaw, down-slanting palpebral fissures, frontal bossing, malar flushing and a sparsity of hair in the frontotemporal region. Developmental delay is also a common feature. ,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,multiplex ligation-dependent probe amplification (MLPA),Approximately 80-90% of patients with Sotos syndrome will have an identifiable abnormality in NSD1. ,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Overgrowth/Macrocephaly NGS Panel,Sotos Syndrome: NSD1 Sequencing,,,,,,,,,,,,,,,,,,,

Sotos Syndrome: NSD1 Sequencing

NSD1 sequencing is a molecular test used to identify variants in the gene associated with Sotos syndrome.

Sotos Syndrome: NSD1 Sequencing,NSD1 sequencing is a molecular test used to identify variants in the gene associated with Sotos syndrome. Sequencing of the NSD1 gene and MLPA deletion/duplication analysis can be ordered concurrently, sequentially or separately.,81406,6 weeks,,,$1,500 , Sotos syndrome is an autosomal dominant overgrowth condition due to mutations in the NSD1 gene, which has been localized to 5q35. Individuals present with a typical facial appearance, including a long narrow face and prominent narrow jaw, down-slanting palpebral fissures, frontal bossing, malar flushing and a sparsity of hair in the frontotemporal region. Developmental delay is also a common feature. Sequencing of the NSD1 gene and MLPA deletion/duplication analysis can be ordered concurrently, sequentially or separately., Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Sanger Sequencing,Approximately 80-90% of patients with Sotos syndrome will have an identifiable abnormality in NSD1. ,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Overgrowth/Macrocephaly NGS Panel,Sotos Syndrome: NSD1 Deletion/Duplication MLPA,,,,,,,,,,,,,,,,,,,

Spinal Muscular Atrophy: SMN1/SMN2 Deletion/Duplication MLPA

SMN1/SMN2 Deletion/Duplication (MLPA) is a molecular test used to identify copy number variants in the gene associated with Spinal Muscular Atrophy, SMA.

Spinal Muscular Atrophy: SMN1/SMN2 Deletion/Duplication MLPA,SMN1/SMN2 Deletion/Duplication (MLPA) is a molecular test used to identify copy number variants in the gene associated with Spinal Muscular Atrophy.,81329,2 weeks,,,$600 ,Spinal Muscular Atrophy (SMA) is a neuromuscular disorder characterized by progressive muscle weakness resulting from the degeneration of motor neurons in the brain and spinal cord. The incidence of SMA is 1 in 10,000 births, and the age of onset and severity are variable. While specific types of SMA have been historically described, phenotypic overlap does occur from one type to another. Congenital SMA (SMA 0) may present prenatally with reduced fetal movement or at birth and is characterized by severe hypotonia, respiratory failure, and absent developmental milestones. Feeding difficulties are common, and death typically occurs by the age of 6 months. SMA I, also known as Werdnig-Hoffman disease, presents in individuals less than six months of age, and associated symptoms include proximal muscle weakness, swallowing issues, and labored breathing. Tongue fasciculations are present in a majority of affected individuals, and death typically occurs by 2 years of age. SMA II appears at 6-12 months of age, and it is characterized by delayed motor development due to muscle weakness, scoliosis, and lung disease. Affected individuals are unable to walk without assistance, but most patients survive to adulthood. Individuals SMA II show delayed motor development due to muscle weakness, scoliosis, and lung disease, and are unable to walk without assistance; however, most patients survive to adulthood. In individuals with onset at greater than 18 months of age (SMA III, or Kugelberg-Welander disease), the majority maintain the ability to walk and have a normal lifespan. The onset of muscle weakness in adulthood (SMA IV) commonly occurs with a course similar to type III. These forms of spinal muscular atrophy are inherited in an autosomal recessive pattern, and most are due to homozygous deletions of at least exon 7 of the SMN1 gene. Typically, the number of copies of SMN2 can modify the phenotype of SMA.,Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,multiplex ligation-dependent probe amplification (MLPA),MLPA analysis is used to detect copy number of exons 7 and 8 of the SMN1 and SMN2 genes, and this test is designed for diagnosis and carrier screening. Please note that while approximately 95% of individuals with spinal muscular atrophy have homozygous deletions of at least exon 7 of the SMN1 gene, up to 5% of patients may have a sequence variant that will not be detected by MLPA analysis.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/2020/12/GGC-Molecular-Requisition.pdf,Spinal Muscular Atrophy: SMN1 Sequencing,,,,,,,,,,,,,,,,,,,,

Storage Disease Panel

This urine panel provides a comprehensive screening for lysosomal storage diseases and includes the mucopolysaccharides analysis, oligosaccharides, and siaclic acid analysis. Each of these biochemical tests may also be ordered separately.

Storage Disease Panel,This urine panel provides a comprehensive screening for lysosomal storage diseases and includes the mucopolysaccharides analysis, oligosaccharides, and siaclic acid analysis (LSDs). Many of these storage disorders have overlapping features or may present with similar phenotypes in young children. These tests are not diagnostic but may help rule out a storage disorder or narrow down the list of possible diagnoses. Each of these biochemical tests may also be ordered separately.,MPS analysis: 83864 x 2, Oligosaccharides: 84377, Sialic acid: 84275, 21 days for the completion of all tests. Separate reports will be generated and sent out as each test is completed,,,$750 for panel,,A storage disorder may be considered in children with: developmental delay regression of acquired skills failure to thrive coarse facies hepatosplenomegaly corneal clouding stiff joints dysostosis multiplex ,Quantitative analysis of total glycosaminoglycans (GAGs) is performed using a 1,9-dimethylene blue (DMB) colorimetric reaction that is measured by spectrophotometry. Quantitative analysis of the individual component GAGs (chondroitin sulfate, dermatan sulfate, heparan sulfate and keratan sulfate) is performed by stable isotope dilution liquid chromatography-tandem mass spectrometry (LC-MS/MS). Oligosaccharides are analyzed liquid chromatography tandem mass spectrometry (LC-MS/MS). Total and free sialic acid is detected using High Pressure Liquid Chromatography (HPLC) following a fluorogenic reaction with DMB both before and after hydrolysis. ,,This panel requires at least 10 ml of random catch urine., The urine sample must be shipped frozen, preferably on dry ice. If the sample can be delivered the same day, it may be sent cold or at room temperature. Samples must be sent frozen by overnight delivery services or courier. ,,https://ggc.org/wp-content/uploads/pdf/GGC-Biochemical-Requisition.pdf,,,,,,,,,,,,,,,,,,,,,

Surfactant Dysfunction & Respiratory Distress in Premature Infants NGS Panel

This panel of 11 genes is intended for patients with a diagnosis or clinical suspicion of Surfactant Dysfunction and Respiratory Distress in Premature Infants.

Surfactant Dysfunction & Respiratory Distress in Premature Infants NGS Panel,This panel of 11 genes is intended for patients with a diagnosis or clinical suspicion of Surfactant Dysfunction and Respiratory Distress in Premature Infants,81479,5 weeks,,,$2,500 ,This panel consists of 11 genes that have been associated with surfactant metabolism dysfunction that results in respiratory distress, tachypnea, failure to thrive, and hypoxia. This condition can occur in full-term infants on occasion, and most forms are inherited in an autosomal recessive pattern.,For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,Next Generation Sequencing,The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. Novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3′ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Comprehensive Pulmonary NGS Panel,CytoScan Xon Microarray: Single Gene Analysis,CytoScan Xon Microarray: More than 10 Genes,Focused NGS – Panel,QUICK Analysis,,,,,,,,,,,,,,,,

Syndromic Autism NGS Panel

This panel of 83 genes is intended for patients with a diagnosis of Autism and is performed by next generation sequencing.

Syndromic Autism NGS Panel,This panel of 83 genes is intended for patients with a diagnosis of Autism and is performed by next generation sequencing (NGS).,81479,8 weeks,,,$3,500 ,Autism encompasses a broad spectrum of clinically similar neurobehavioral phenotypes that are collectively known as autism spectrum disorders (ASDs). Most progress in identifying single gene causes of autism have come from studies of recognized genetic disorders. This diagnostic test includes 83 genes that represent the most common genetic syndromes that involve autism as a significant clinical feature. ,The panel provides a cost-effective option for patients with syndromal autism and normal cytogenetic/array-based testing. Given the content of the panel it also serves as a useful 2nd tier test for patients with a phenotype that resembles Rett or Angelman syndrome.,Next Generation Sequencing,,The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient. ,The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.,If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.,https://ggc.org/wp-content/uploads/pdf/GGC-Panel-Requisition.pdf,Aarskog Syndrome: FGD1 Sequencing,Angelman Syndrome: (15q11q13) FISH Analysis,Angelman Syndrome: UBE3A Sequencing,Angelman Syndrome Methylation-Specific MLPA,Borjeson-Forssman-Lehmann Syndrome: PHF6 Sequencing,CASK-Related X-Linked Intellectual Disability (XLID): CASK Sequencing,Cornelia de Lange Syndrome: NIPBL Sequencing,Cornelia de Lange Syndrome NGS Panel,CytoScan Xon Microarray: 2-10 Genes,Focused NGS – Panel,PTEN-Related Disorders: PTEN Deletion/Duplication MLPA,PTEN-Related Disorders: PTEN Sequencing,PTEN-Related Disorders: PTEN Targeted Analysis,PTPN11-Related Disorders: PTPN11 Sequencing,QUICK Analysis,Rett Syndrome: MECP2 Deletion/Duplication MLPA,Rett Syndrome: MECP2 Sequencing,Rett Syndrome: MECP2 Targeted Mutation Analysis,Rett/Angelman Syndrome NGS Panel,Sotos Syndrome: NSD1 Sequencing,

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