M
Mucopolysaccharidosis (MPS) Enzyme Panel
Mucopolysaccharidosis (MPS) Enzyme Panel
This enzyme panel includes quantitative measurement of the activity for 10 MPS enzymes.
Mucopolysaccharidosis (MPS) Enzyme Panel,,,,,,,,,,,,,,,,,,
Metabolic Disorders
Hurler Syndrome (MPS I),Hunter Syndrome (MPS II),Sanfilippo syndrome A (MPS IIIA),Sanfilippo syndrome B (MPS IIIB),Sanfilippo syndrome C (MPS IIIC),Sanfilippo syndrome D (MPS IIID),Morquio syndrome A (MPS IVA),Morquio syndrome B (MPS IVB),Maroteaux-Lamy syndrome (MPSVI),Sly Syndrome (MPS VII),Mucolipidosis II also I-cell disease,Mucolipidosis III,Multiple Sulfatase Deficiency,
H
Hunter Syndrome (MPS II): Iduronate-2-Sulfatase Enzyme Analysis
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.,,,,,,,,,,,,,,,,,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),
Metabolic Disorders
Hunter Syndrome (MPS II),
W
Whole Exome Sequencing
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.,,,,,,,,,,,,,,,,,
Dysmorphology and Genetics
D
Dilated & Arrhythmogenic Cardiomyopathy NGS Panel
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).,,,,,,,,,,,,,,,,,Exon-Level Microarray: 2-10 Genes,Duchenne/Becker Muscular Dystrophy: DMD Deletion/Duplication MLPA,QUICK Analysis,
Cardiology
ACTC1; ACTN2; BAG3; CASQ2; CRYAB; CSRP3; DES; DMD; DOLK; DSC2; DSG2; DSP; DTNA; EMD; GATAD1; GLA; JUP; LAMA4; LAMP2; LDB3; LMNA; MYBPC3; MYH6; MYH7; MYL2; MYL3; MYOZ2; MYPN; NEBL; NEXN; PKP2; PLN; PRDM16; PRKAG2; PTPN11; RAF1; RBM20; RYR2; SCN5A; SGCD; TAFAZZIN; TCAP; TMEM43; TNNC1; TNNI3; TNNT2; TPM1; TRDN; TTN; TTR; VCL
Dilated & Arrhythmogenic Cardiomyopathy,Duchenne Muscular Dystrophy,Hypertrophic Cardiomyopathy,Catecholaminergic polymorphic ventricular tachycardia,Limb-girdle muscular dystrophy,Arrhythmogenic right ventricular dysplasia,Left Ventricular Noncompaction 1,Emery-Dreifuss muscular dystrophy,Fabry Disease,Atrial Septal Defect 5,Danon Disease,Laing distal myopathy,Scapuloperoneal myopathy,Idiopathic dilated cardiomyopathy,Wolff-Parkinson-White syndrome,LEOPARD Syndrome,Noonan syndrome,Brugada syndrome,Long QT Syndrome,Sick Sinus Syndrome,Barth syndrome,Amyloidosis,
3
3-Methylcrotonylglycinuria: MCCC1/MCCC2 Sequencing
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.,,,,,,,,,,,,,,,,,
Metabolic Disorders
MCCC1; MCCC2
3-Methylcrotonylglycinuria I,3-Methylcrotonylglycinuria II,
A
Aarskog Syndrome: FGD1 Sequencing
Aarskog Syndrome: FGD1 Sequencing
FGD1 sequencing is a molecular test used to identify variants in the gene associated with Aarskog syndrome.
Aarskog Syndrome: FGD1 Sequencing,FGD1 sequencing is a molecular test used to identify variants in the gene associated with Aarskog syndrome. 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.,,,,,,,,,,,,,,,,,Syndromic Autism NGS Panel,X-Linked Intellectual Disability (XLID) NGS Panel,
Dysmorphology and Genetics
FGD1;
Aarskog syndrome,
A
Achondroplasia: FGFR3 Targeted Analysis
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.,,,,,,,,,,,,,,,,,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,
Musculoskeletal and Connective Tissue Disorders
FGFR3;
Achondroplasia,
A
Acylcarnitine Profile
Acylcarnitine Profile
Quantitation of acylcarnitines
Acylcarnitine Profile,Acylcarnitines are important intermediates in fatty acid oxidation. Elevations in specific acylcarnitines can be diagnostic for several fatty acid oxidation disorders and organic acidurias.,,,,,,,,,,,,,,,,,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,Brain Tumor Panel,
Metabolic Disorders
Fatty Acid Oxidation Disorders,
A
Adrenoleukodystrophy, X-Linked: ABCD1 Sequencing
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders, Neurology
ABCD1;
Adrenoleukodystrophy X-linked,
A
Alpha-mannosidosis: Alpha-mannosidase Enzyme Analysis
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders
Alpha-mannosidosis,
A
Alpha-mannosidosis: MAN2B1 Sequencing
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders
MAN2B1;
Alpha-mannosidosis,
A
Amino Acid Analysis (CSF, Plasma, Urine)
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.
Amino Acid Analysis (CSF, Plasma, Urine),Amino acids are components of all of the body's proteins, both enzymatic and nonenzymatic. Any abnormality in the metabolism of amino acids may lead to intellectual disabilities or other problems. Treatments are available for some amino acid disorders which can help prevent the disabilities and other symptoms.,,,,,,,,,,,,,,,,,Brain Tumor : EGFR Amplification Analysis,Brain Tumor : IDH1 R132H Variant Analysis,Brain Tumor : NEK1 Deletion Analysis,Brain Tumor : NF1 Deletion Analysis,Brain Tumor : TP53 Deletion Analysis,Brain Tumor Panel,
Metabolic Disorders
Amino Acidurias,
A
Aminoglycoside-Induced Hearing Loss: MT-RNR1 Targeted Analysis
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.,,,,,,,,,,,,,,,,,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,
Dysmorphology and Genetics
MT-RNR1;
Aminoglycoside-induced hearing loss,
A
Angelman Syndrome: (15q11q13) FISH 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.,,,,,,,,,,,,,,,,,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,
Dysmorphology and Genetics, Neurology
Angelman Syndrome,
A
Angelman Syndrome: UBE3A Sequencing
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.,,,,,,,,,,,,,,,,,Angelman Syndrome: (15q11q13) FISH Analysis,Angelman Syndrome Methylation-Specific MLPA,Epilepsy/Seizure NGS Panel,Rett/Angelman Syndrome NGS Panel,Syndromic Autism NGS Panel,
Dysmorphology and Genetics, Neurology
UBE3A;
Angelman Syndrome,
A
Angelman Syndrome Methylation-Specific MLPA
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.,,,,,,,,,,,,,,,,,Angelman Syndrome: (15q11q13) FISH Analysis,Angelman Syndrome: UBE3A Sequencing,
Dysmorphology and Genetics, Neurology
Angelman Syndrome,
A
Aortic Dysfunction/Dilation & Related Disorders NGS Panel
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).,,,,,,,,,,,,,,,,,Connective Tissue Disorders NGS Panel,Marfan Syndrome: FBN1 Sequencing,QUICK Analysis,Exon-Level Microarray: More than 10 Genes,
Cardiology
ACTA2; CBS; COL1A1; COL3A1; COL5A1; COL5A2; ELN; FBLN5; FBN1; FBN2; MYH11; MYLK; NOTCH1; PLOD1; SKI; SLC2A10; SMAD3; TGFB2; TGFBR1; TGFBR2;
Adams-Oliver syndrome,Aortic valve disease 1,Arterial tortuosity syndrome,Congenital contractural arachnodactyly,Cutis laxa,Loeys-Dietz syndrome,Marfan syndrome,Osteogenesis imperfecta,Shprintzen-Goldberg syndrome,Supravalvular aortic stenosis,
T
Targeted Deletion/Duplication Analysis (qPCR)
Targeted Deletion/Duplication Analysis (qPCR)
This test is used to analyze parents and family members for copy number variants (CNVs) identified in the proband via microarray. Previously called Array Confirmation: Parental and Family Studies.
Targeted Deletion/Duplication Analysis (qPCR),,,,,,,,,,,,,,,,,,Exon-Level Microarray: Single Gene Analysis,Exon-Level Microarray: 2-10 Genes,Whole-Genome SNP Microarray: Cytoscan Dx (FDA Cleared) Microarray,Whole-Genome SNP Microarray: Cytoscan HD Microarray,X-Chromosome High Density Microarray,Prenatal Microarray,
A
ARX-Related Spectrum of X-Linked Intellectual Disability (XLID): ARX Sequencing
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.,,,,,,,,,,,,,,,,,Epilepsy/Seizure NGS Panel,Rett/Angelman Syndrome NGS Panel,Syndromic Autism NGS Panel,X-Linked Intellectual Disability (XLID) NGS Panel,
Dysmorphology and Genetics
ARX;
X-linked Intellectual Disability (XLID),
A
Aspartylglucosaminuria: AGA Sequencing
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders
AGA;
Aspartylglucosaminuria,
A
Aspartylglucosaminuria: Aspartyglucosaminidase Enzyme Analysis
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders
Aspartylglucosaminuria,
B
Bardet-Biedl Syndrome NGS Panel
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.,,,,,,,,,,,,,,,,,Exon-Level Microarray: 2-10 Genes,QUICK Analysis,Retinitis Pigmentosa NGS Panel,
Ophthalmology
ADIPOR1; ARL6; BBIP1; BBS1; BBS10; BBS12; BBS2; BBS4; BBS5; BBS7; BBS9; CCDC28B; CEP290; CFAP418; IFT27; INPP5E; KCNJ13; LZTFL1; MKKS; MKS1; NPHP1; SDCCAG8; TMEM67; TRIM32; TTC8; WDPCP
Bardet-Biedl syndrome,
B
Beare-Stevenson with Cutis Gyrata: FGFR2 Targeted Analysis
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.
Beare-Stevenson with Cutis Gyrata: FGFR2 Targeted Analysis,For patients with suspected Beare-Stevenson syndrome, exon 9 of FGFR2 is sequenced. This anlaysis must be ordered specifically and is billed serparately than FGFR2 analysis for the other craniosynostosis disorders.,,,,,,,,,,,,,,,,,Craniosynostosis NGS Panel,FGFR2-Related Disorders: FGFR2 Sequencing,FGFR2-Related Disorders: FGFR2 Targeted Analysis,
Musculoskeletal and Connective Tissue Disorders
FGFR2;
Beare-Stevenson w/cutis gyrata,
B
Beckwith-Wiedemann Syndrome Methylation-Specific MLPA
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.,,,,,,,,,,,,,,,,,Beckwith-Wiedemann Syndrome (BWS): CDKN1C Sequencing,Overgrowth/Macrocephaly NGS Panel,Vascular Malformation NGS Panel,
Dysmorphology and Genetics
CDKN1C;
Beckwith-Wiedemann syndrome,
B
Beckwith-Wiedemann Syndrome (BWS): CDKN1C Sequencing
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.,,,,,,,,,,,,,,,,,Beckwith-Wiedemann Syndrome Methylation-Specific MLPA,Overgrowth/Macrocephaly NGS Panel,Vascular Malformation NGS Panel,
Dysmorphology and Genetics
CDKN1C;
Beckwith-Wiedemann syndrome,
B
Beta-mannosidosis: Beta-mannosidase Enzyme Analysis
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders
Beta-mannosidosis,
B
Beta-mannosidosis: MANBA Sequencing
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.,,,,,,,,,,,,,,,,,Beta-mannosidosis: Beta-mannosidase Enzyme Analysis,Exon-Level 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,
Metabolic Disorders
MANBA;
Beta-mannosidosis,
B
Biotinidase Deficiency: Biotinidase Enzyme 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.,,,,,,,,,,,,,,,,,Biotinidase Deficiency: BTD Sequencing,Coffin-Siris Syndrome NGS Panel,
Metabolic Disorders
Biotinidase Deficiency,
B
Biotinidase Deficiency: BTD Sequencing
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.,,,,,,,,,,,,,,,,,Biotinidase Deficiency: Biotinidase Enzyme Analysis,Exon-Level Microarray: Single Gene Analysis,
Metabolic Disorders
BTD;
Biotinidase Deficiency,
B
Brugada Syndrome NGS Panel
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).,,,,,,,,,,,,,,,,,Comprehensive Cardiac NGS Panel,Exon-Level Microarray: 2-10 Genes,QUICK Analysis,
Cardiology
ABCC9; CACNA1C; CACNA2D1; CACNB2; GPD1L; HCN4; KCND3; KCNE3; KCNH2; KCNJ8; PKP2; RANGRF; SCN1B; SCN2B; SCN3B; SCN5A; SLMAP; TRPM4
Brugada syndrome,Timothy Syndrome,Sick Sinus Syndrome,Short QT syndrome,Arrhythmogenic right ventricular dysplasia,Cantú syndrome,Sudden infant death syndrome,Progressive familial heart block,
C
C5-DC (Glutarylcarnitine) 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.
C5-DC (Glutarylcarnitine) Analysis,Measurement of urine glutarylcarnitine (C5-DC) is available as an additional test for glutaric acidemia, particularly type I. While many patients with GA1 are identified via newborn screening, individuals who are considered low excretors may not be identified by this type of screening and by follow-up diagnostic testing. A low excretor will have normal or only mildly elevated biochemical analytes in the plasma, but will often have more distinctive elevations of C5-DC in the urine. Patients with glutaric acidemia type II will also typically show elevated glutarylcarnitine in urine.,,,,,,,,,,,,,,,,,Glutaric Acidemia Type I: GCDH Sequencing,
Metabolic Disorders
Glutaric Acidemia type 1 (GA1),
C
Carnitine Analysis, Total and Free
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 Analysis, Total and Free,Carnitine plays an important role in the transport of long chain fatty acids into the mitochondria as well as the formation of acylcarnitines.,,,,,,,,,,,,,,,,,
Metabolic Disorders
C
Carnitine Palmitoyltransferase IA Deficiency: CPT1A Sequencing
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 IA Deficiency: CPT1A Sequencing,CPT1A sequencing is a molecular test used to identify variants in the gene associated with Carnitine Palmitoyltransferase IA Deficiency.,,,,,,,,,,,,,,,,,Exon-Level Microarray: Single Gene Analysis,
Metabolic Disorders
CPT1A;
Carnitine Palmitoyltransferase IA Deficiency,
C
Carnitine Palmitoyltransferase II Deficiency: CPT2 Sequencing
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.,,,,,,,,,,,,,,,,,Rhabdomyolysis & Metabolic Myopathies NGS Panel,Exon-Level Microarray: Single Gene Analysis,
Metabolic Disorders
CPT2;
Carnitine Palmitoyltransferase II Deficiency,
C
Charcot-Marie-Tooth Disease Type 1A: PMP22 Deletion/Duplication MLPA
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.,,,,,,,,,,,,,,,,,Charcot-Marie-Tooth Hereditary Neuropathy NGS Panel,
Musculoskeletal and Connective Tissue Disorders, Neurology
PMP22;
Charcot-Marie-Tooth disease,
C
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).,,,,,,,,,,,,,,,,,Charcot-Marie-Tooth Disease Type 1A: PMP22 Deletion/Duplication MLPA,Exon-Level Microarray: 2-10 Genes,QUICK Analysis,
Neurology
AARS1; AIFM1; BSCL2; COX6A1; DHTKD1; DNAJB2; DNM2; DYNC1H1; EGR2; FGD4; FIG4; GAN; GARS1; GDAP1; GJB1; GNB4; HARS1; HINT1; HSPB1; HSPB8; IGHMBP2; INF2; KARS1; KIF1B; LITAF; LMNA; LRSAM1; MARS1; MED25; MFN2; MME; MORC2; MPZ; MTMR2; NDRG1; NEFH; NEFL; PDK3; PLEKHG5; PMP22; PRPS1; PRX; RAB7A; SBF1; SBF2; SH3TC2; SLC12A6; SPG11; SURF1; TFG; TRIM2; TRPV4; VCP; YARS1;
Charcot-Marie-Tooth disease,Combined oxidative phosphorylation deficiency,Cowchock syndrome,Giant axonal neuropathy,Neuromyotonia and axonal neuropathy,Limb-girdle muscular dystrophy,
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CHD7-Related Disorders: CHD7 Sequencing
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.
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.,,,,,,,,,,,,,,,,,Exon-Level Microarray: Single Gene Analysis,Syndromic Autism NGS Panel,
CHD7;
CHARGE Syndrome,Kallmann Syndrome,
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Chromosome 14 UPD Analysis
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.,,,,,,,,,,,,,,,,,EpiSign Complete,EpiSign Variant,
Dysmorphology and Genetics
Kagami-Ogata syndrome,Temple syndrome,
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Chromosome 15 UPD Analysis
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.,,,,,,,,,,,,,,,,,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,
Dysmorphology and Genetics, Neurology
Angelman Syndrome,Prader-Willi syndrome,
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Chromosome 7 UPD Analysis
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.,,,,,,,,,,,,,,,,,Russell-Silver Syndrome Methylation-Specific MLPA,EpiSign Complete,EpiSign Variant,
Dysmorphology and Genetics
Russell-Silver syndrome (RSS),
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Chromosome Analysis (Bone Marrow, Stimulated/Unstimulated Blood)
Chromosome Analysis (Bone Marrow, Stimulated/Unstimulated Blood)
Chromosome Analysis (Bone Marrow, Stimulated/Unstimulated Blood),,,,,,,,,,,,,,,,,,
Hematology and Oncology
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Chromosome Analysis, High Resolution (Blood)
Chromosome Analysis, High Resolution (Blood)
Chromosome Analysis, High Resolution (Blood),High resolution chromosome analysis requires the use of elongation methods to obtain a high percentage of prophase and prometaphase spreads. The chromosomes are less condensed than in routine metaphase analysis, and the number of identifiable bands is expanded, allowing a more sensitive analysis of the karyotype. This type of study is required for the detection of subtle chromosome rearrangements, and it is considered an important component in the diagnosis of microdeletion syndromes such as Prader-Willi syndrome, Angelman syndrome, Smith-Magenis syndrome, and Miller-Dieker syndrome. For high resolution chromosome analysis a minimum of 20 cells are counted to determine the modal number and a minimum of 5 cells are analyzed for chromosomal abnormalities Because special culture conditions are required, high resolution studies must be specifically requested.,,,,,,,,,,,,,,,,,
Dysmorphology and Genetics
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Chromosome Analysis, Routine (Blood)
Chromosome Analysis, Routine (Blood)
Chromosome Analysis, Routine (Blood),Chromosome analysis is an important component in the diagnosis and evaluation of genetic disorders. Chromosome abnormalities in which there is too much or too little genetic material can result in congenital malformations, intellectual disability, and aberrant sexual differentiation. Chromosome analysis can detect chromosome abnormalities such as trisomy, monosomy, triploidy, and marker chromosomes as well as balanced and unbalanced rearrangements. For routine chromosome analysis a minimum of 20 cells are counted to determine the modal number, and a minimum of 5 cells are analyzed for chromosomal abnormalities from G-banded preparations.,,,,,,,,,,,,,,,,,
Dysmorphology and Genetics
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Chromosome Analysis, Routine; Short Study (Blood)
Chromosome Analysis, Routine; Short Study (Blood)
Chromosome Analysis, Routine; Short Study (Blood),Short study chromosome analysis includes routine karyotyping using G-banding, but fewer cells are analyzed than with routine karyotyping. For short study chromosome analysis, a minimum of 5 cells are counted and a minimum of 2 cells are analyzed for chromosomal abnormalities. Short study chromosome analysis can be used to complement other methods such as microarray to detect certain rearrangements that can only be identified by karyotype. A karyotype can detect chromosome abnormalities such as trisomy, monosomy, triploidy, and marker chromosomes as well as balanced and unbalanced rearrangements.,,,,,,,,,,,,,,,,,
Dysmorphology and Genetics
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Chromosome Analysis, Routine; Rule Out Mosaic (Blood)
Chromosome Analysis, Routine; Rule Out Mosaic (Blood)
Chromosome Analysis, Routine; Rule Out Mosaic (Blood),Chromosome mosaicism is defined as the presence of two or more cell lines with different chromosome constitutions in a single individual. Chromosome analysis to rule out mosaicism includes routine karyotyping using G-banded preparations, but additional cells are counted compared to routine chromosome analysis. A minimum of 50 cells are counted and 5 cells are analyzed.,,,,,,,,,,,,,,,,,
Dysmorphology and Genetics
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Chromosome Analysis, Routine; Rule Out Mosaic (Solid Tissue/POC)
Chromosome Analysis, Routine; Rule Out Mosaic (Solid Tissue/POC)
Chromosome Analysis, Routine; Rule Out Mosaic (Solid Tissue/POC),Chromosome mosaicism is defined as the presence of two or more cell lines with different chromosome constitutions in a single individual. Chromosome analysis to rule out mosaicism from solid tissue includes routine karyotyping using G-banded preparations. A minimum of 50 cells are counted and 5 cells are analyzed for chromosomal abnormalities.,,,,,,,,,,,,,,,,,
Dysmorphology and Genetics
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Chronic Myelomonocytic Leukemia (CMML) Panel
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..
Chronic Myelomonocytic Leukemia (CMML) Panel,,,,,,,,,,,,,,,,,,
Hematology and Oncology
Chronic Myelomonocytic Leukemia (CMML),
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Citrullinemia Type 1: ASS1 Sequencing
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.,,,,,,,,,,,,,,,,,Amino Acid Analysis (CSF, Plasma, Urine),Exon-Level Microarray: Single Gene Analysis,Orotic Acid Analysis,
Metabolic Disorders
ASS1;
Citrullinemia Type 1,
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Coffin-Lowry Syndrome: RPS6KA3 Sequencing
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.,,,,,,,,,,,,,,,,,Exon-Level Microarray: Single Gene Analysis,X-Linked Intellectual Disability (XLID) NGS Panel,
Dysmorphology and Genetics
RPS6KA3;
Coffin-Lowry syndrome,
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Coffin-Siris Syndrome 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.,,,,,,,,,,,,,,,,,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,Exon-Level Microarray: 2-10 Genes,QUICK Analysis,
Dysmorphology and Genetics
ADNP; ANKRD11; ARID1A; ARID1B; ARID2; BTD; HDAC8; HELLS; KMT2A; KMT2D; NIPBL; PHF6; PIGV; RAD21; SMARCA2; SMARCA4; SMARCB1; SMARCE1; SMC1A; SMC3; SOX11; TBC1D24;
Biotinidase Deficiency,Borjeson-Forssman-Lehmann syndrome,Coffin-Siris syndrome,Cornelia de Lange syndrome,Kabuki syndrome,Helsmoortel-van der Aa syndrome,KBG syndrome,Immunodeficiency-centromeric instability-facial anomalies syndrome 4,Wiedemann-Steiner syndrome,Nicolaides-Baraitser syndrome,DOOR syndrome,
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Comprehensive Cardiac NGS Panel
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.,,,,,,,,,,,,,,,,,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,Exon-Level Microarray: Single Gene Analysis,Exon-Level Microarray: 2-10 Genes,Exon-Level Microarray: More than 10 Genes,
Cardiology
A2ML1; ABCC9; ACADVL; ACTC1; ACTN2; AGL; AKAP9; ALMS1; ANK2; ANKRD1; BAG3; BRAF; CACNA1C; CACNA2D1; CACNB2; CALM1; CALM2; CASQ2; CAV3; CBL; CRYAB; CSRP3; DES; DMD; DOLK; DSC2; DSG2; DSP; DTNA; EMD; FHL1; FKRP; FKTN; GAA; GATAD1; GLA; GPD1L; HCN4; HRAS; ILK; JPH2; JUP; KCNA5; KCND3; KCNE1; KCNE2; KCNE3; KCNH2; KCNJ2; KCNJ5; KCNJ8; KCNQ1; KRAS; LAMA4; LAMP2; LDB3; LMNA; MAP2K1; MAP2K2; MTO1; MYBPC3; MYH6; MYH7; MYL2; MYL3; MYLK2; MYOZ2; MYPN; NEBL; NEXN; NKX2-5; NRAS; PDLIM3; PKP2; PLN; PRDM16; PRKAG2; PTPN11; RAF1; RANGRF; RBM20; RIT1; RYR2; SCN1B; SCN2B; SCN3B; SCN4B; SCN5A; SGCD; SHOC2; SLC22A5; SLMAP; SNTA1; SOS1; TAFAZZIN; TCAP; TGFB3; TMEM43; TMEM70; TNNC1; TNNI3; TNNT2; TPM1; TRDN; TRPM4; TTN; TTR; VCL;
Arrhythmogenic right ventricular dysplasia,Brugada syndrome,Cardio-facio-cutaneous syndrome,Dilated & Arrhythmogenic Cardiomyopathy,Emery-Dreifuss muscular dystrophy,Fabry Disease,Hypertrophic Cardiomyopathy,Long QT Syndrome,Noonan syndrome,Primary Carnitine Deficiency,Very Long Chain Fatty Acid Deficiency (VLCAD),Familial Atrial Fibrillation,Atrial Septal Defect 5,Left Ventricular Noncompaction 4,Alstrom Syndrome,Myopathy,Ventricular Tachycardia, Catecholaminergic Polymorphic,Creatine Phosphokinase,Limb-girdle muscular dystrophy,Rippling Muscle Disease,Congenital Disorder of Glycosylation,Left Ventricular Noncompaction 1,Scapuloperoneal myopathy,Muscular dystrophy-dystroglycanopathy,Sick Sinus Syndrome,Costello syndrome,Naxos Disease,Jervell and Lange-Nielsen syndrome,Andersen Syndrome,Cantú syndrome,Sudden infant death syndrome,Danon Disease,Combined oxidative phosphorylation deficiency,Laing distal myopathy,Idiopathic dilated cardiomyopathy,Conotruncal heart malformations,Hypoplastic left heart syndrome,Hypothyroidism,Tetralogy of Fallot,LEOPARD Syndrome,Barth syndrome,Loeys-Dietz syndrome,Mitochondrial complex V deficiency,
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Comprehensive Pulmonary NGS Panel
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)
,,,,,,,,,,,,,,,,,Cystic Fibrosis: CFTR Sequencing,Exon-Level 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,Exon-Level Microarray: Single Gene Analysis,Exon-Level Microarray: More than 10 Genes,QUICK Analysis,Dyskeratosis Congenita NGS Panel,
Pulmonology
ABCA3; ACD; ACVRL1; ALMS1; AP3B1; AP3D1; AQP1; ASCL1; ATP13A3; BLOC1S3; BLOC1S6; BMPR1B; BMPR2; CAV1; CCDC103; CCDC39; CCDC40; CCDC65; CCNO; CENPF; CFAP298; CFTR; COPA; CSF2RA; CSF2RB; CTC1; DKC1; DNAAF1; DNAAF11; DNAAF2; DNAAF3; DNAAF4; DNAAF5; DNAH1; DNAH11; DNAH5; DNAH8; DNAI1; DNAI2; DNAJB13; DNAL1; DOCK8; DRC1; DTNBP1; EFEMP2; EIF2AK4; ELMOD2; ELN; ENG; FAM111B; FARSB; FBLN5; FBN1; FLCN; FLNA; FOXF1; GAA; GAS8; GBA1; GDF2; GRHL2; HPS1; HPS3; HPS4; HPS5; HPS6; HRAS; INVS; KCNA5; KCNK3; KLF2; LIG4; LTBP4; MARS1; MCIDAS; MUC5B; MYO1H; NAF1; NF1; NHP2; NKX2-1; NME8; NOP10; ODAD1; ODAD2; ODAD3; ODAD4; OFD1; PARN; PEPD; PHOX2B; PURA; RPGR; RSPH1; RSPH3; RSPH4A; RSPH9; RTEL1; SCNN1A; SCNN1B; SCNN1G; SERPINA1; SFTPA1; SFTPA2; SFTPB; SFTPC; SFTPD; SLC7A7; SMAD1; SMAD4; SMAD9; SOX17; SPAG1; STAT3; STING1; TBX4; TERC; TERT; TINF2; TSC1; TSC2; USB1; WRAP53; ZMYND10
Alveolar capillary dysplasia with misalignment of pulmonary veins,Bronchiectasis with or without elevated sweat chloride,Childhood idiopathic pulmonary arterial hypertension.,Choreoathetosis hypothyroidism and neonatal respiratory distress,Chronic obstructive pulmonary disease,Ciliary dyskinesia primary,Dyskeratosis congenita,Hereditary hemorrhagic telangiectasia,Idiopathic pulmonary fibrosis,Infantile Nephronophthisis,Juvenile polyposis,Lysinuric protein intolerance,Mucociliary clearance disorder,multiple morphological abnormalities of the sperm flagella,Orofaciodigital syndrome,Primary Pulmonary hypertension,Pseudohypoaldosteronism,Pulmonary surfactant metabolism dysfunction,Pulmonary venoocclusive disease,Stromme syndrome,Alstrom Syndrome,Hermansky-Pudlak syndrome,Pulmonary arterial hypertension,Congenital central hypoventilation syndrome,Autoimmune interstitial lung, joint, and kidney disease,Hyper-IgE recurrent infection syndrome,Cutis laxa,Pulmonary capillary hemangiomatosis,Supravalvular aortic stenosis (SVAS),Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis,Marfan syndrome,Geleophysic dysplasia,Birt-Hogg-Dube syndrome,Primary spontaneous pneumothorax,Pompe disease also Glycogen storage disease type II,Gaucher Disease,Costello syndrome,Nephronophthisis,Familial Atrial Fibrillation,LIG4 syndrome,Interstitial lung and liver disease,Neurofibromatosis,Simpson-Golabi-Behmel syndrome,Prolidase deficiency,Emphysema due to AAT deficiency,Susceptibility to chronic obstructive pulmonary disease,Ischiocoxopodopatellar syndrome,STING-associated vasculopathy with onset in infancy,Lymphangioleiomyomatosis,Tuberous sclerosis,
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Cone-Rod Dystrophy 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.,,,,,,,,,,,,,,,,,Exon-Level Microarray: 2-10 Genes,QUICK Analysis,
Ophthalmology
ABCA4; ADAM9; AIPL1 ; ATF6; BEST1; CACNA1F ; CACNA2D4; CDHR1; CERKL ; CFAP410; CFAP418; CNGA3; CNGB3; CNNM4; CRB1; CRX; EYS; GNAT2; GUCA1A ; GUCY2D; KCNV2; PDE6C; PDE6H ; PITPNM3; POC1B; PROM1; PRPH2; RAB28; RAX2; RDH5; RIMS1; RPGR; RPGRIP1 ; SEMA4A; TTLL5; TULP1; UNC119;
Cone-rod dystrophy,Achromatopsia,Jalili syndrome,Macular dystrophy,Leber Congenital Amaurosis,Fundus albipunctatus,
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Congenital Contractures NGS Panel
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.,,,,,,,,,,,,,,,,,Exon-Level Microarray: Single Gene Analysis,Exon-Level Microarray: 2-10 Genes,Marfan Syndrome: FBN1 Sequencing,QUICK Analysis,
Musculoskeletal and Connective Tissue Disorders, Neurology
ACTA1; ADCY6; ADGRG6; ALG2; ANTXR2; CHAT; CHMP1A; CHRNA1; CHRNB1; CHRND; CHRNE; CHRNG; CHST14; CNTN1; CNTNAP1; COL3A1; DNM2; DOK7; ECEL1; ERBB3; ERCC6; FBN1; FBN2; FKBP10; GLDN; GLE1; KLHL41; LMNA; MUSK; MYBPC1; MYH2; MYH3; MYH8; NALCN; NEB; NEK9; PIEZO2; PIP5K1C; PITX1; PLOD2; PLOD3; PSMB8; RAPSN; RIPK4; SCARF2; SKI; SLC18A3; SLC39A13; SLC5A7; TNNI2; TNNT3; TPM2; TPM3; UBA1; ZBTB42; ZC4H2; ZMPSTE24
Arthrogryposis,Bruck syndrome,CAP myopathy,Congenital Myasthenic syndrome,Contractural arachnodactyly congenital,Ehlers-Danlos syndrome,Emery-Dreifuss muscular dystrophy,Escobar syndrome,Fetal akinesia deformation sequence,Hyaline fibromatosis syndrome,Lethal congenital contracture syndrome,Marfan syndrome,MASS syndrome,Nemaline myopathy,Restrictive dermopathy lethal,Shprintzen-Goldberg syndrome,Cerebrooculofacioskeletal syndrome,Proximal myopathy and ophthalmoplegia,Trismus-pseudocamptodactyly syndrome,Congenital contractures of the limbs and face, hypotonia, and developmental delay,Marden-Walker syndrome,Liebenberg syndrome,Lysyl hydroxylase 3 deficiency,Van den Ende-Gupta syndrome,Wieacker-Wolff syndrome,Mandibuloacral dysplasia with type B lipodystrophy,Congenital clubfoot with or without deficiency of long bones and/or mirror-image polydactyly,
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Congenital Stationary Night Blindness (CSNB) NGS Panel
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.,,,,,,,,,,,,,,,,,Exon-Level Microarray: 2-10 Genes,QUICK Analysis,
Ophthalmology
CABP4; CACNA1F; GNAT1; GNB3; GPR179; GRK1; GRM6; LRIT3; NYX; PDE6B; RDH5; RHO; SAG; SLC24A1; TRPM1;
Congenital stationary night blindness,Oguchi disease,Cone-rod synaptic disorder,Fundus albipunctatus,
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Connective Tissue Disorders NGS Panel
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.,,,,,,,,,,,,,,,,,Aortic Dysfunction/Dilation & Related Disorders NGS Panel,Copper Transport Disorders: ATP7A Sequencing,Exon-Level Microarray: 2-10 Genes,Marfan Syndrome: FBN1 Sequencing,QUICK Analysis,
Musculoskeletal and Connective Tissue Disorders
ABCC6; ACTA2; ACVR1; ADAMTS2; ATP6V0A2; ATP7A; CBS; CHST14; COL11A1; COL1A1; COL1A2; COL2A1; COL3A1; COL5A1; COL5A2; ELN; FBLN5; FBN1; FBN2; FKBP14; MYH11; MYLK; NOTCH1; PKD2; PLOD1; PRDM5; SKI; SLC2A10; SLC39A13; SMAD3; TGFB2; TGFBR1; TGFBR2; TNXB; ZNF469;
Adams-Oliver syndrome,Arterial tortuosity syndrome,Congenital contractural arachnodactyly,Cutis laxa,Ehlers-Danlos syndrome,Familial Thoracic Aortic aneurysm,Homocystinuria,Loeys-Dietz syndrome,Marfan syndrome,Osteogenesis imperfecta,Shprintzen-Goldberg syndrome,Supravalvular aortic stenosis,Pseudoxanthoma elasticum,Fibrodysplasia ossificans progressiva,Menkes,Classic homocystinuria,Musculocontractural Ehlers-Danlos syndrome,Stickler syndrome,Arthrochalasia Ehlers-Danlos syndrome,Czech dysplasia, metatarsal type,Vascular Ehlers-Danlos syndrome,Megacystis-microcolon-intestinal hypoperistalsis syndrome,Familial bicuspid aortic valve,Brittle cornea syndrome,Acromicric dysplasia,Osteoarthritis with mild chondrodysplasia,
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Connexin 26: GJB2 Sequencing
Connexin 26: GJB2 Sequencing
This test includes sequencing of the coding region.
Connexin 26: GJB2 Sequencing,,,,,,,,,,,,,,,,,,Connexin 26: GJB2 Sequencing,Hearing Loss NGS Panel,
ENT
GJB2
Non-syndromal hearing loss autosomal recessive,
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Connexin 26: GJB2 Targeted Mutation Analysis
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.,,,,,,,,,,,,,,,,,Connexin 26: GJB2 Sequencing,
Dysmorphology and Genetics
GJB2;
Non-syndromal hearing loss autosomal recessive,
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Copper Transport Disorders: ATP7A 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.,,,,,,,,,,,,,,,,,
Metabolic Disorders
ATP7A;
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Cornelia de Lange Syndrome NGS Panel
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.,,,,,,,,,,,,,,,,,Cornelia de Lange Syndrome: NIPBL Sequencing,
Dysmorphology and Genetics
HDAC8; NIPBL; RAD21; SMC1A; SMC3;
Cornelia de Lange syndrome,
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Craniosynostosis NGS Panel
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.,,,,,,,,,,,,,,,,,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,
Genetics and Dysmorphology
FGFR1; FGFR2; FGFR3; MSX2; POR; RAB23; RECQL4; TWIST1
Craniosynostosis,Crouzon with Acanthosis Nigricans,Muenke syndrome,Saethre-Chotzen syndrome,
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Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Urine)
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 (Urine),Creatine biosynthesis disorders can be separated based on urine testing for guanidinoacetate (GAA) and creatine. Patients with AGAT deficiency show a low urinary GAA level while patients with GAMT have an elevated GAA level.,,,,,,,,,,,,,,,,,Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Plasma),
Metabolic Disorders
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Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Plasma)
Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Plasma)
Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Plasma),Creatine biosynthesis disorders can be separated based on plasma testing for guanidinoacetate (GAA) and creatine. Patients with AGAT deficiency show a low plasma GAA level while patients with GAMT have an elevated GAA level.,,,,,,,,,,,,,,,,,Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Urine),
Metabolic Disorders
C
Creatine Transporter Deficiency: Creatine Analysis (Urine)
Creatine Transporter Deficiency: Creatine Analysis (Urine)
Elevated creatine/creatinine ratios in urine are suggestive of creatine transporter deficiency.
Creatine Transporter Deficiency: Creatine Analysis (Urine),Elevated creatine/creatinine ratios in urine are suggestive of creatine transporter deficiency.,,,,,,,,,,,,,,,,,Creatine Transporter Deficiency: SLC6A8 Sequencing,
Metabolic Disorders
Creatine Transporter Deficiency,
C
Creatine Transporter Deficiency: SLC6A8 Sequencing
Creatine Transporter Deficiency: SLC6A8 Sequencing
SLC6A8 sequencing is a molecular test used to identify variants in the gene associated with 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.,,,,,,,,,,,,,,,,,Creatine Transporter Deficiency: Creatine Analysis (Urine),Exon-Level Microarray: Single Gene Analysis,
Metabolic Disorders
SLC6A8
Creatine Transporter Deficiency,
C
Crouzon with Acanthosis Nigricans: FGFR3 Targeted Analysis
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.
Crouzon with Acanthosis Nigricans: FGFR3 Targeted Analysis,,,,,,,,,,,,,,,,,,Craniosynostosis NGS Panel,Skeletal Dysplasia NGS Panel,
Musculoskeletal and Connective Tissue Disorders
FGFR3;
Crouzon with Acanthosis Nigricans,
C
Cystic Fibrosis: CFTR Sequencing
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.,,,,,,,,,,,,,,,,,Comprehensive Pulmonary NGS Panel,Cystic Fibrosis: CFTR Targeted Mutation Analysis,Exon-Level Microarray: Single Gene Analysis,Primary Ciliary Dyskinesia & Cystic Fibrosis NGS Panel,
Pulmonology
CFTR;
Cystic Fibrosis,
C
Cystic Fibrosis: CFTR Targeted Mutation Analysis
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,,,,,,,,,,,,,,,,,Cystic Fibrosis: CFTR Sequencing,
Pulmonology
CFTR;
Cystic Fibrosis,
E
Exon-Level Microarray: 2-10 Genes
Exon-Level Microarray: 2-10 Genes
Exon-Level 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,,,,,,,,,,,,,,,,,Exon-Level Microarray: Single Gene Analysis,Exon-Level Microarray: More than 10 Genes,
Dysmorphology and Genetics, Genetics and Dysmorphology
E
Exon-Level Microarray: Single Gene Analysis
Exon-Level Microarray: Single Gene Analysis
Exon-Level 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,,,,,,,,,,,,,,,,,Exon-Level Microarray: 2-10 Genes,Exon-Level Microarray: More than 10 Genes,
Dysmorphology and Genetics, Genetics and Dysmorphology
D
DiGeorge/VCF: (22q11.2) FISH 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.
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.,,,,,,,,,,,,,,,,,Whole-Genome SNP Microarray: Cytoscan Dx (FDA Cleared) Microarray,Whole-Genome SNP Microarray: Cytoscan HD Microarray,
Cardiology, Dysmorphology and Genetics
DiGeorge also velocardial facial (VCF),
D
Disorders of Sexual Development: FISH Panel, Routine (includes SRY/Xcen & X/Y dual assay probes)
Disorders of Sexual Development: FISH Panel, Routine (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, Routine (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.,,,,,,,,,,,,,,,,,Whole-Genome SNP Microarray: Cytoscan HD Microarray,
Dysmorphology and Genetics
Ambiguous Genetalia,
D
Duchenne/Becker Muscular Dystrophy: DMD Deletion/Duplication MLPA
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.,,,,,,,,,,,,,,,,,
Musculoskeletal and Connective Tissue Disorders
DMD;
Duchenne Muscular Dystrophy,Becker/Duchenne muscular dystrophy,
E
Epilepsy/Seizure NGS Panel
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.
,,,,,,,,,,,,,,,,,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,Exon-Level Microarray: 2-10 Genes,QUICK Analysis,
Neurology
ABAT; ADSL; ALDH5A1; ALDH7A1; ALG13; ANKRD11; ARFGEF2; ARHGEF9; ARID1B; ARX; ATP1A2; ATP6AP2; BRAT1; CACNA1A; CACNA1E; CACNB4; CASK; CASR; CDKL5; CHD2; CHRNA2; CHRNA4; CHRNB2; CLCN4; CLN3; CLN5; CLN6; CLN8; CLTC; CNTNAP2; CSTB; CTSD; CUL4B; CUX2; DCX; DDX3X; DEPDC5; DNM1; DNM1L; DOCK7; DYRK1A; EEF1A2; EHMT1; EPM2A; FGF12; FLNA; FOLR1; FOXG1; GABBR2; GABRA1; GABRB1; GABRB2; GABRB3; GABRG2; GAMT; GATM; GNAO1; GNB1; GOSR2; GRIN1; GRIN2A; GRIN2B; HCN1; HECW2; HNRNPU; IQSEC2; IRF2BPL; KANSL1; KCNA1; KCNA2; KCNAB1; KCNB1; KCNC1; KCNH1; KCNJ10; KCNQ2; KCNQ3; KCNT1; KCNT2; KCTD7; KIF5C; LGI1; LIAS; MBD5; MECP2; MEF2C; MFSD8; MOCS1; MOCS2; MTOR; NALCN; NECAP1; NEDD4L; NEXMIF; NHLRC1; NPRL2; NPRL3; NRXN1; OPHN1; PACS1; PACS2; PAFAH1B1; PCDH19; PHF6; PHGDH; PIGA; PIGN; PIGO; PIGT; PLCB1; PLPBP; PNKP; PNPO; POLG; PPP2CA; PPP3CA; PPT1; PRICKLE1; PRICKLE2; PRRT2; PURA; QARS1; RELN; RHOBTB2; ROGDI; SCARB2; SCN1A; SCN1B; SCN2A; SCN3A; SCN8A; SIK1; SLC13A5; SLC25A19; SLC25A22; SLC2A1; SLC35A2; SLC6A1; SLC9A6; SMC1A; SMS; SNAP25; SPATA5; SPTAN1; ST3GAL3; ST3GAL5; STX1B; STXBP1; SYN1; SYNGAP1; SYNJ1; SZT2; TBC1D24; TCF4; TPP1; TSC1; TSC2; TUBB2A; UBA5; UBE3A; USP9X; WDR45; WDR62; WWOX; ZEB2;
Early Infantile Epileptic Encephalopathy,Susceptibility to malignant hyperthermia,Episodic Ataxia,Idiopathic generalized epilepsy,Primary Microcephaly,Seckel syndrome,Nocturnal frontal lobe epilepsy,Neuronal Ceroid Lipofuscinosis,Lissencephaly,Benign familial neonatal/infantile seizures,Generalized epilepsy with febrile seizures,Tuberous sclerosis,Pontocerebellar hypoplasia,Rett syndrome,Pitt-Hopkins,GABA-transaminase deficiency,Adenylosuccinate lyase deficiency,Succinic semialdehyde dehydrogenase deficiency,Pyridoxine-dependent epilepsy,16q24.3 microdeletion syndrome,Periventricular nodular heterotopia,Hyperekplexia-epilepsy syndrome,Coffin-Siris syndrome,Familial or Sporadic Hemiplegic Migraine,Alternating hemiplegia of childhood,Juvenile myoclonic epilepsy,X-linked intellectual disability, Najm type,Autosomal dominant hypocalcemia,Lennox-Gastaut syndrome,Progressive epilepsy-intellectual disability syndrome, Finnish type,Cortical dysplasia-focal epilepsy syndrome,Unverricht-Lundborg disease,X-linked intellectual disability, Cabezas type,Encephalopathy due to defective mitochondrial and peroxisomal fission,Kleefstra syndrome,Lafora disease,Frontometaphyseal dysplasia,Neurodegeneration due to cerebral folate transport deficiency,Guanidinoacetate methyltransferase deficiency,L-Arginine:glycine amidinotransferase deficiency,Progressive myoclonic epilepsy,Koolen-De Vries syndrome,Temple-Baraitser syndrome,EAST syndrome,Lipoic acid synthetase deficiency,5q14.3 microdeletion syndrome,Molybdenum cofactor deficiency,Isolated focal cortical dysplasia type IIa,X-linked intellectual disability, Cantagrel type,Familial focal epilepsy with variable foci,Miller-Dieker Syndrome,Borjeson-Forssman-Lehmann syndrome,Phosphoglycerate dehydrogenase deficiency,Mitochondrial recessive ataxia syndrome,Familial infantile convulsions with paroxysmal choreoathetosis,Amelocerebrohypohidrotic syndrome,Christianson syndrome,Wiedemann-Steiner syndrome,Presynaptic congenital myasthenic syndrome,West syndrome,Amish infantile epilepsy syndrome,Dravet syndrome,Mowat-Wilson syndrome,
F
Fabry Disease: Alpha-galactosidase Enzyme 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.,,,,,,,,,,,,,,,,,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,
Cardiology, Metabolic Disorders, Neurology
Fabry Disease,
F
Fabry Disease: GLA Sequencing
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.,,,,,,,,,,,,,,,,,Fabry Disease: Alpha-galactosidase Enzyme Analysis,
Metabolic Disorders, Neurology
GLA;
Fabry Disease,
F
Factor V Leiden Thrombophilia: F5 Targeted 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.
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.,,,,,,,,,,,,,,,,,Prothrombin 20210A: F2 Targeted Analysis,
Cardiology
F5;
Factor V Leiden Factor 5 thrombophilia,
F
FGFR2-Related Disorders: FGFR2 Sequencing
FGFR2-Related Disorders: FGFR2 Sequencing
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 Targeted Analysis,Craniosynostosis NGS Panel,
Musculoskeletal and Connective Tissue Disorders
FGFR2;
FGFR2-Related Disorders,Apert syndrome,Beare-Stevenson w/cutis gyrata,Pfeiffer syndrome,
F
FGFR2-Related Disorders: FGFR2 Targeted Analysis
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.,,,,,,,,,,,,,,,,,FGFR2-Related Disorders: FGFR2 Sequencing,Craniosynostosis NGS Panel,
Musculoskeletal and Connective Tissue Disorders
FGFR2;
FGFR2-Related Disorders,Apert syndrome,Beare-Stevenson w/cutis gyrata,Pfeiffer syndrome,
F
Focused NGS - Single Gene
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.
,,,,,,,,,,,,,,,,,Focused NGS - Panel,
Dysmorphology and Genetics, Genetics and Dysmorphology
F
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.
,,,,,,,,,,,,,,,,,Focused NGS - Single Gene,
Dysmorphology and Genetics, Genetics and Dysmorphology
F
Fragile X Syndrome: FMR1 Trinucleotide Repeat Analysis
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.,,,,,,,,,,,,,,,,,
FMR1;
Fragile X syndrome,
F
Fucosidosis: Alpha-fucosidase Enzyme Analysis
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders
Fucosidosis,
F
Fucosidosis: FUCA1 Sequencing
Fucosidosis: FUCA1 Sequencing
FUCA1 sequencing is a molecular test used to identify variants in the gene associated with Fucosidosis.
Fucosidosis: FUCA1 Sequencing,FUCA1 sequencing is a molecular test used to identify variants in the gene associated with Fucosidosis.,,,,,,,,,,,,,,,,,
Metabolic Disorders
FUCA1;
G
Galactosemia: Galactose-1-Phosphate Analysis
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.,,,,,,,,,,,,,,,,,Galactosemia: GALT Sequencing,
Metabolic Disorders
Galactosemia,
G
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.,,,,,,,,,,,,,,,,,Galactosemia: Galactose-1-Phosphate Analysis,Exon-Level Microarray: Single Gene Analysis,
Metabolic Disorders
GALT;
Galactosemia,
G
Galactosialidosis: CTSA Sequencing
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.,,,,,,,,,,,,,,,,,Sialidosis: Alpha-Neuraminidase (Sialidase) Enzyme Analysis,Non-Immune Hydrops NGS Panel,Hydrops Enzyme Panel,
Metabolic Disorders
CTSA;
Galactosialidosis,
G
Gaucher Disease: Beta-glucosidase Enzyme Analysis
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.,,,,,,,,,,,,,,,,,Gaucher Disease: GBA Sequencing,Chitotriosidase Enzyme Analysis,Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease Enzyme Panel (DBS),Lysosomal Storage Disease NGS Panel,
Metabolic Disorders
Gaucher Disease,
C
Chitotriosidase Enzyme Analysis
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.,,,,,,,,,,,,,,,,,Gaucher Disease: Beta-glucosidase Enzyme Analysis,Gaucher Disease: GBA Sequencing,
Metabolic Disorders, Pulmonology
Gaucher Disease,
G
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders
GBA;
Gaucher Disease,
G
Glutaric Acidemia Type I: GCDH Sequencing
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.,,,,,,,,,,,,,,,,,Tryptophan Analysis,
Metabolic Disorders
GCDH;
Glutaric Acidemia type 1 (GA1),
H
Hearing Loss NGS Panel
Hearing Loss NGS Panel
The Hearing Loss NGS Panel on the genome backbone includes sequencing & CNV analysis of 147 nuclear genes intended for patients with a diagnosis of Hearing Loss. This panel also includes targeted analysis for variants specifically associated with hearing loss in 10 mitochondrial genes. 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.
Hearing Loss NGS Panel,The Hearing Loss NGS Panel on the genome backbone includes sequencing & CNV analysis of 147 nuclear genes intended for patients with a diagnosis of Hearing Loss. This panel also includes targeted analysis for variants specifically associated with hearing loss in 10 mitochondrial genes. 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.,,,,,,,,,,,,,,,,,Aminoglycoside-Induced Hearing Loss: MT-RNR1 Targeted Analysis,Connexin 26: GJB2 Sequencing,Connexin 26: GJB2 Targeted Mutation Analysis,Cytogenomic Microarray,Exon-Level Microarray: Single Gene Analysis,Exon-Level Microarray: 2-10 Genes,Exon-Level Microarray: More than 10 Genes,Focused NGS - Single Gene,Focused NGS - Panel,Mitochondrial Depletion NGS Panel,Mitochondrial DNA Variant Panel,mtDNA Targeted Analysis: Known Familial Mutation,mtDNA Targeted Analysis with Heteroplasmy: Known Familial Mutation,QUICK Analysis,STRC-Related Disorders: STRC Deletion/Duplication MLPA,STRC-Related Disorders: STRC Sequencing,Targeted Analysis: Known Familial Mutation,
Dysmorphology and Genetics
ABHD12; ACTG1; ADGRV1; AFG2B; AIFM1; ALMS1; ARSG; ATP2B2; ATP6V1B1; ATP6V1B2; BCS1L; BSND; CABP2; CACNA1D; CATSPER2; CCDC50; CDC14A; CDH23; CEACAM16; CEP250; CEP78; CHD7; CIB2; CISD2; CLDN14; CLIC5; CLPP; CLRN1; COCH; COL11A1; COL11A2; COL4A3; COL4A4; COL4A5; COL9A1; COL9A2; COL9A3; CRYM; DCDC2; DIABLO; DIAPH1; DIAPH3; DMXL2; DNMT1; DSPP; EDN3; EDNRB; ELMOD3; EPS8; EPS8L2; ESPN; ESRRB; EYA1; EYA4; FGF3; FOXI1; GATA3; GIPC3; GJB2; GJB3; GJB6; GPSM2; GRHL2; GRXCR1; GRXCR2; GSDME; HARS2; HGF; HOMER2; HSD17B4; ILDR1; KARS1; KCNE1; KCNJ10; KCNQ1; KCNQ4; KITLG; LARS2; LHFPL5; LMX1A; LOXHD1; LRTOMT; MAN2B1; MARVELD2; MCM2; MIR96; MITF; MPZL2; MSRB3; MT-ATP6; MT-ND1; MT-RNR1; MT-TE; MT-TH; MT-TK; MT-TL1; MT-TS1; MT-TS2; MT-TV; MYH14; MYH9; MYO15A; MYO3A; MYO6; MYO7A; NARS2; OSBPL2; OTOA; OTOF; OTOG; OTOGL; P2RX2; PAX3; PCDH15; PDZD7; PEX1; PEX6; PJVK; PNPT1; POU3F4; POU4F3; PRPS1; PTPRQ; RDX; RIPOR2; S1PR2; SERPINB6; SIX1; SLC12A2; SLC17A8; SLC26A4; SLC26A5; SLC52A2; SLC52A3; SLITRK6; SMPX; SNAI2; SOX10; STRC; SYNE4; TBC1D24; TECTA; TIMM8A; TJP2; TMC1; TMIE; TMPRSS3; TPRN; TRIOBP; TSPEAR; TUBB4B; TWNK; USH1C; USH1G; USH2A; WHRN; WFS1
Aminoglycoside-induced hearing loss,Alport syndrome,Branchiootorenal syndrome,Baraitser-Winter syndrome,Deafness-infertility syndrome,Dominant Nonsyndromic Deafness (DFNA),Jervell and Lange-Nielsen syndrome,Pendred syndrome,Perrault syndrome,Recessive non syndromic deafness (DFNB),Renal Tubular Acidosis,Mitochondrial Nonsyndromic Sensorineural Deafness,Stickler syndrome,Usher syndrome,Waardenburg syndrome,Wolfram syndrome,Otospondylomegaepiphyseal Dysplasia,Bartter syndrome,Sinoatrial node dysfunction and deafness,Fibrochondrogenesis,Weissenbacher-Zweymuller syndrome,Otofaciocervical syndrome,Bart-Pumphrey syndrome,Hystrix-like ichthyosis with deafness,Keratitis-ichthyosis-deafness syndrome,Palmoplantar Keratoderma with Deafness,Vohwinkel syndrome,Alpha-mannosidosis,Alstrom Syndrome,Anterior Segment Anomalies,Auditory Neuropathy Spectrum Disorder,Bjornstead syndrome,Brown-Vialetto-Van Laere syndrome,AD Cerebellar Ataxia Deafness Narcolepsy (ADCADN),CHARGE Syndrome,Chudley-McCullough syndrome,COMMAND syndrome,Cone-Rod Dystrophy & Hearing Loss,Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia,Congenital Deafness with Onychodystrophy, AD,Craniofacial-Deafness-Hand syndrome,D-bifunctional protein deficiency,Deafness and Myopia,Deafness, AD,Deafness, AR,Digenic Deafness, GJB2/GJB6,Ectodermal Dysplasia/Short Stature syndrome,Enlarged Vestibular Aqueduct,Epstein syndrome,Fechtner syndrome,Heimler syndrome,Leber Congenital Amaurosis,Macrothrombocytopenia and Progressive Sensorineural Deafness,Mohr-Tranebjaerg syndrome,Nonsyndromic Deafness and Male Infertility,PCWH syndrome,Peripheral Neuropathy, Myopathy, Hoarsness, and Hearing Loss,Phosphoribosylpyrophosphate Synthetase Superactivity,Piebaldism,Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC),Sensorineural Node Dysfunction and Deafness,SESAME syndrome,Tietz Albinism-Deafness syndrome,X-linked Deafness,X-linked Recessive Charcot-Marie-Tooth, 5,
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Hereditary Spastic Paraplegia NGS Panel
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.,,,,,,,,,,,,,,,,,Exon-Level Microarray: 2-10 Genes,QUICK Analysis,
Neurology
ABCD1; ACOX1; ADAR; ALDH18A1; ALS2; AP4B1; AP4E1; AP4M1; AP4S1; AP5Z1; ATL1; ATP13A2; B4GALNT1; BICD2; BSCL2; C19orf12; CAPN1; CPT1C; CYP2U1; CYP7B1; DDHD1; DDHD2; ENTPD1; ERLIN1; ERLIN2; EXOSC3; FA2H; FARS2; GBA2; GJC2; HACE1; HSPD1; IFIH1; KDM5C; KIDINS220; KIF1A; KIF1C; KIF5A; KLC2; L1CAM; MAG; MARS1; MECP2; MTRFR; NIPA1; NT5C2; OPA3; PGAP1; PLA2G6; PLP1; PNPLA6; PQBP1; RAB3GAP2; REEP1; REEP2; RNASEH2B; RTN2; SACS; SAMHD1; SLC16A2; SLC2A1; SLC33A1; SPART; SPAST; SPG11; SPG21; SPG7; TECPR2; TFG; TREX1; TUBB3; TUBB4A; UCHL1; VAMP1; VPS37A; WASHC5; WDR45; ZFYVE26; ZFYVE27
Spastic Paraplegia,Adrenoleukodystrophy X-linked,Peroxisomal acyl-CoA oxidase deficiency,Aicardi-Goutieres syndrome,Silver spastic paraplegia syndrome,Pontocerebellar hypoplasia,Intellectual Disability, X-linked syndromic, Claes-Jensen type,Charcot-Marie-Tooth disease,Rett syndrome,3-methylglutaconic aciduria,Infantile neuroaxonal dystrophy,Renpenning syndrome,Warburg micro syndrome,Neurodegen with brain iron accumulation,Allan-Herndon-Dudley syndrome,GLUT1 Deficiency,Troyer syndrome,Mast syndrome,Cortical dysplasia with brain malformations,Hypomyelinating leukodystrophy,
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Hermansky-Pudlak Syndrome & Pulmonary Fibrosis NGS Panel
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.,,,,,,,,,,,,,,,,,Comprehensive Pulmonary NGS Panel,Exon-Level Microarray: Single Gene Analysis,Exon-Level Microarray: More than 10 Genes,QUICK Analysis,
Pulmonology
ABCA3; ACD; AP3B1; AP3D1; BLOC1S3; BLOC1S6; COPA; CSF2RA; CTC1; DKC1; DTNBP1; ELMOD2; FAM111B; FARSB; GRHL2; HPS1; HPS3; HPS4; HPS5; HPS6; LIG4; MARS1; MUC5B; NAF1; NHP2; NKX2-1; NOP10; PARN; RTEL1; SFTPA1; SFTPA2; SFTPB; SFTPC; SFTPD; STING1; TERC; TERT; TINF2; USB1; WRAP53
Hermansky-Pudlak syndrome,Idiopathic pulmonary fibrosis,Dyskeratosis congenita,Pulmonary surfactant metabolism dysfunction,Autoimmune interstitial lung, joint, and kidney disease,Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis,Ectodermal Dysplasia/Short Stature syndrome,LIG4 syndrome,Dubowitz syndrome,Interstitial lung and liver disease,Pediatric pulmonary alveolar proteinosis,Choreoathetosis hypothyroidism and neonatal respiratory distress,Telomere-related Pulmonary fibrosis and/or bone marrow failure,Susceptibility to chronic obstructive pulmonary disease,STING-associated vasculopathy with onset in infancy,Poikiloderma with neutropenia,Rothmund-Thomson syndrome,Neurodevelopmental disorder with brain, liver, and lung abnormalities,
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Homocysteine 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.
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.,,,,,,,,,,,,,,,,,
Metabolic Disorders
Homocystinuria,
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Hydrops Enzyme Panel
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.
Hydrops Enzyme Panel,This panel includes quantification of the activity of 4 enzymes.,,,,,,,,,,,,,,,,,Sialidosis: Alpha-Neuraminidase (Sialidase) Enzyme Analysis,Sialidosis: NEU1 Sequencing,Gaucher Disease: Beta-glucosidase Enzyme Analysis,Gaucher Disease: GBA Sequencing,Galactosialidosis: CTSA Sequencing,Sly Syndrome (MPS VII): Beta-glucuronidase Enzyme Analysis,Sly Syndrome (MPS VII): GUSB Sequencing,Non-Immune Hydrops NGS Panel,
Metabolic Disorders
Galactosialidosis,Gaucher Disease,Sly Syndrome (MPS VII),Sialidosis also Mucolipidosis type I (ML I),
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Non-Immune Hydrops NGS Panel
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.,,,,,,,,,,,,,,,,,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,Exon-Level Microarray: 2-10 Genes,QUICK Analysis,
ALG1; ALG9; ASAH1; BRAF; CANT1; CBL; CCBE1; CDAN1; CHRNA1; CHRND; CHRNG; CLCNKA; CLCNKB; COL2A1; CTSA; DHCR7; FAT4; FGFR3; FOXC2; FOXP3; G6PD; GALNS; GATA1; GBA1; GBE1; GLA; GLB1; GNPTAB; GUSB; HADHA; HADHB; HRAS; IDUA; KAT6B; KIAA0586; KIF23; KLF1; KMT2D; KRAS; LBR; LIPA; LZTR1; MAP2K1; MAP2K2; MID1; MVK; NEU1; NPC1; NRAS; PEX1; PEX10; PEX12; PEX13; PEX14; PEX16; PEX19; PEX26; PEX3; PEX5; PEX6; PIEZO1; PIGA; PKLR; PMM2; PTH1R; PTPN11; RAF1; RASA1; RIT1; RPL11; RPL35A; RPL5; RPS10; RPS17; RPS19; RPS24; RPS26; SEC23B; SHOC2; SLC17A5; SMPD1; SOS1; SOS2; SOX18; SUMF1; UROS; WDR35;
Galactosialidosis,Noonan syndrome,Thanatophoric dysplasia type I,Thanatophoric dysplasia type 2,Gaucher Disease,Fabry Disease,Costello syndrome,Kabuki syndrome,Hurler Syndrome (MPS I),Morquio syndrome A (MPS IVA),Morquio syndrome B (MPS IVB),Sly Syndrome (MPS VII),Cardio-facio-cutaneous syndrome,Niemann-Pick disease A/B,Multiple Sulfatase Deficiency,Mucolipidosis II also I-cell disease,Multiple pterygium syndrome,Congenital Disorder of Glycosylation,Desbuquois dysplasia,Hennekam lymphangiectasia-lymphedema syndrome,Congenital dyserythropoietic anemia,Bartter syndrome,Achondrogenesis type II,Hypochondrogenesis,Smith-Lemli-Opitz syndrome,Lymphedema-distichiasis syndrome,X-linked immunodysregulation, polyendocrinopathy, and enteropathy,Glucose-6-phosphate dehydrogenase deficiency,X-linked anemia with or without neutropenia and/or platelet abnormalities,Glycogen storage disease IV,Trifunctional protein deficiency,Genitopatellar syndrome,Short-rib thoracic dysplasia,Greenberg skeletal dysplasia,Wolman disease,Opitz GBBB syndrome,Mevalonic aciduria,Sialidosis also Mucolipidosis type I (ML I),Peroxisome biogenesis disorder (Zellweger syndrome),Hereditary lymphedema,Pyruvate kinase deficiency,Capillary malformation-arteriovenous malformation,Diamond-Blackfan anemia,Infantile sialic acid storage disease,Congenital erythropoietic porphyria,
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Hypertrophic Cardiomyopathy NGS Panel
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.,,,,,,,,,,,,,,,,,Comprehensive Cardiac NGS Panel,Exon-Level Microarray: 2-10 Genes,Lung Adenocarcinoma : PTEN Mutation Analysis,Lung Adenocarcinoma Panel,
Cardiology, Dysmorphology and Genetics
ACTC1; ACTN2; CSRP3; DSG2; GLA; LAMP2; MYBPC3; MYH7; MYL2; MYL3; MYOZ2; NEXN; PDLIM3; PKP2; PLN; PRKAG2; PTPN11; RAF1; TNNC1; TNNI3; TNNT2; TPM1; TTN; TTR;
Hypertrophic Cardiomyopathy,Fabry Disease,Noonan syndrome,LEOPARD Syndrome,Atrial septal defect,Dilated cardiomyopathy,Left Ventricular Noncompaction 4,Danon Disease,Laing distal myopathy,Glycogen storage disease,Wolff-Parkinson-White syndrome,Amyloidosis,
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Hypochondroplasia: FGFR3 Targeted Analysis
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.,,,,,,,,,,,,,,,,,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,
Musculoskeletal and Connective Tissue Disorders
FGFR3;
Hypochrondroplasia,
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Kabuki Syndrome: KMT2D Sequencing
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.,,,,,,,,,,,,,,,,,Hydrops Enzyme Panel,Lysosomal Storage Disease NGS Panel,Lung Adenocarcinoma : PTEN Mutation Analysis,Lung Adenocarcinoma Panel,
Dysmorphology and Genetics
KMT2D;
Kabuki syndrome,
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Kabuki Syndrome 2: KDM6A Sequencing
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.,,,,,,,,,,,,,,,,,Kabuki Syndrome: KMT2D Sequencing,Lung Adenocarcinoma : EGFR Mutation Analysis,Lung Adenocarcinoma Panel,
Dysmorphology and Genetics
KDM6A;
Kabuki syndrome 2,
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Krabbe Disease: Galactocerebrosidase Enzyme Analysis
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.,,,,,,,,,,,,,,,,,Krabbe Disease: GALC Sequencing,Lysosomal Storage Disease Enzyme Panel (DBS),Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease NGS Panel,Neurological Enzyme Panel,
Metabolic Disorders, Neurology
Krabbe Disease also Galactocerebrosidase Deficiency,
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Krabbe Disease: GALC Sequencing
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.,,,,,,,,,,,,,,,,,Krabbe Disease: Galactocerebrosidase Enzyme Analysis,Lysosomal Storage Disease NGS Panel,Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease Enzyme Panel (DBS),
Metabolic Disorders
GALC;
Krabbe Disease also Galactocerebrosidase Deficiency,
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Leber Congenital Amaurosis NGS Panel
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).,,,,,,,,,,,,,,,,,Exon-Level Microarray: 2-10 Genes,QUICK Analysis,
Ophthalmology
AIPL1; CABP4; CEP290; CLUAP1; CRB1; CRX; DTHD1; GDF6; GUCY2D; IFT140; IMPDH1; IQCB1; KCNJ13; LCA5; LRAT; NMNAT1; OTX2; PRPH2; RD3; RDH12; RPE65; RPGRIP1; SPATA7; TULP1
Leber Congenital Amaurosis,Cone-rod synaptic disorder,Retinitis pigmentosa,Senior-Loken syndrome,Retinal dystrophy,
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Long QT Syndrome NGS Panel
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).,,,,,,,,,,,,,,,,,Comprehensive Cardiac NGS Panel,Exon-Level Microarray: 2-10 Genes,QUICK Analysis,
Cardiology
AKAP9; ANK2; CACNA1C; CALM1; CALM2; CASQ2; CAV3; KCNE1; KCNE2; KCNH2; KCNJ2; KCNJ5; KCNQ1; RYR2; SCN4B; SCN5A; SNTA1; TRDN
Long QT Syndrome,Brugada syndrome,Timothy Syndrome,Catecholaminergic polymorphic ventricular tachycardia,Creatine Phosphokinase,Tateyama type of distal myopathy,Rippling Muscle Disease,Jervell and Lange-Nielsen syndrome,Familial Atrial Fibrillation,Short QT syndrome,Andersen Syndrome,Dilated cardiomyopathy,Sick Sinus Syndrome,Ventricular Tachycardia, Catecholaminergic Polymorphic,
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Lysosomal Storage Disease Enzyme Panel
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.
,,,,,,,,,,,,,,,,,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 (MLD): 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,
Metabolic Disorders
Alpha-mannosidosis,Beta-mannosidosis,Fucosidosis,Aspartylglucosaminuria,Fabry Disease,Gaucher Disease,Morquio syndrome B (MPS IVB),Krabbe Disease also Galactocerebrosidase Deficiency,Metachromatic Leukodystrophy (MLD),Niemann-Pick disease A/B,Schindler Disease also Kanzaki Disease,Tay-Sachs Disease,Sandhoff Disease,
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Lysosomal Storage Disease Enzyme Panel (DBS)
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders
Alpha-mannosidosis,Aspartylglucosaminuria,Beta-mannosidosis,Fabry Disease,Fucosidosis,Gaucher Disease,Morquio syndrome B (MPS IVB),Krabbe Disease also Galactocerebrosidase Deficiency,Niemann-Pick disease A/B,Neuronal Ceroid Lipofuscinosis Type 2 (CLN2),Pompe disease also Glycogen storage disease type II,Schindler Disease also Kanzaki Disease,
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Lysosomal Storage Disease NGS Panel
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).
,,,,,,,,,,,,,,,,,Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease Enzyme Panel,Exon-Level Microarray: 2-10 Genes,QUICK Analysis,
Metabolic Disorders
ADAMTSL2; AGA; ANTXR2; ARSA; ARSB; ASAH1; ATP13A2; CLN3; CLN5; CLN6; CLN8; COL11A2; COL2A1; CTNS; CTSA; CTSC; CTSD; CTSK; DHCR7; DNAJC5; DYM; FUCA1; GAA; GALC; GALNS; GBA1; GLA; GLB1; GM2A; GNE; GNPTAB; GNS; GPC3; GUSB; HEXA; HEXB; HGSNAT; HRAS; HYAL1; IDS; IDUA; KMT2D; LAMP2; LIPA; MAN2B1; MANBA; MCOLN1; MFSD8; NAGA; NAGLU; NEU1; NPC1; NPC2; PEX1; PEX10; PEX12; PEX13; PEX14; PEX16; PEX19; PEX2; PEX26; PEX3; PEX5; PEX6; PHYH; PPT1; PSAP; RAI1; SGSH; SLC17A5; SMPD1; SUMF1; TCF4; TPP1
Hurler Syndrome (MPS I),Hunter Syndrome (MPS II),Sanfilippo syndrome A (MPS IIIA),Sanfilippo syndrome B (MPS IIIB),Sanfilippo syndrome C (MPS IIIC),Sanfilippo syndrome D (MPS IIID),Morquio syndrome IV (MPS IV),Maroteaux-Lamy syndrome (MPSVI),Sly Syndrome (MPS VII),Gaucher Disease,Fabry Disease,Krabbe Disease also Galactocerebrosidase Deficiency,Pompe disease also Glycogen storage disease type II,Metachromatic Leukodystrophy (MLD),Mucolipidosis II also I-cell disease,Neuronal Ceroid Lipofuscinosis,Beta-mannosidosis,Alpha-mannosidosis,Fucosidosis,Sialidosis also Mucolipidosis type I (ML I),Farber Disease,
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Macular Degeneration NGS Panel
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).,,,,,,,,,,,,,,,,,Exon-Level Microarray: 2-10 Genes,QUICK Analysis,
Ophthalmology
ABCA4; BEST1; C1QTNF5; CDH3; CHST6; CNGB3; CTNNA1; DRAM2; EFEMP1; ELOVL4; FBLN5; FSCN2; GUCA1B; HMCN1; IMPG1; IMPG2; MFSD8; OTX2; PROM1; PRPH2; RAX2; RP1L1; RPGR; TIMP3
Age-related Macular degeneration,Stargardt disease,Macular dystrophy,Retinal degeneration,Ectodermal dysplasia, ectrodactyly, and macular dystrophy,Congenital hypotrichosis with juvenile macular dystrophy,Macular corneal dystrophy,Doyne honeycomb retinal dystrophy,Occult macular dystrophy,Sorsby fundus dystrophy,
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Marfan Syndrome: FBN1 Sequencing
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 .,,,,,,,,,,,,,,,,,Connective Tissue Disorders NGS Panel,Exon-Level Microarray: Single Gene Analysis,
Cardiology, Genetics and Dysmorphology
FBN1;
Marfan syndrome,
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Maternal Cell Contamination (MCC)
Maternal Cell Contamination (MCC)
Maternal Cell Contamination (MCC),,,,,,,,,,,,,,,,,,
Dysmorphology and Genetics
M
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: ACADM Sequencing
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.,,,,,,,,,,,,,,,,,Acylcarnitine Profile,
Metabolic Disorders
ACADM;
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Metachromatic Leukodystrophy (MLD): ARSA Sequencing
Metachromatic Leukodystrophy (MLD): ARSA Sequencing
ARSA sequencing is a molecular test used to identify variants in the gene associated with Metachromatic Leukodystrophy.
Metachromatic Leukodystrophy (MLD): ARSA Sequencing,ARSA sequencing is a molecular test used to identify variants in the gene associated with Metachromatic Leukodystrophy.,,,,,,,,,,,,,,,,,Metachromatic Leukodystrophy (MLD): Arylsulfatase A Enzyme Analysis,
Metabolic Disorders, Neurology
ARSA;
Metachromatic Leukodystrophy (MLD),
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Metachromatic Leukodystrophy (MLD): Arylsulfatase A Enzyme Analysis
Metachromatic Leukodystrophy (MLD): 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 (MLD).
Metachromatic Leukodystrophy (MLD): Arylsulfatase A Enzyme Analysis,This biochemical test is a quantitative measurement of arylsulfatase A enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Metachromatic Leukodystrophy. Demonstration of deficient arylsulfatase A enzyme activity is considered the gold standard to confirm a diagnosis of Metachromatic Leukodystrophy.,,,,,,,,,,,,,,,,,Metachromatic Leukodystrophy (MLD): ARSA Sequencing,Lysosomal Storage Disease Enzyme Panel,Lysosomal Storage Disease NGS Panel,
Metabolic Disorders
Metachromatic Leukodystrophy (MLD),
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Mitochondrial Depletion NGS Panel
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.,,,,,,,,,,,,,,,,,Focused NGS - Panel,QUICK Analysis,
Metabolic Disorders
ABAT; AGK; APTX; DGUOK; DNA2; FBXL4; GFER; MFN2; MGME1; MPV17; OPA1; OPA3; POLG; POLG2; RRM2B; SLC25A4; SPG7; SUCLA2; SUCLG1; TFAM; TK2; TWNK; TYMP;
Mitochondrial DNA Depletion Syndrome,GABA-transaminase deficiency,Sengers syndrome,Early-onset ataxia with oculomotor apraxia and hypoalbuminemia,Progressive external ophthalmoplegia,Mitochondrial progressive myopathy with congenital cataract and developmental delay,Charcot-Marie-Tooth disease,Hereditary motor and sensory neuropathy,3-methylglutaconic aciduria,Optic atrophy,Spastic Paraplegia,
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Mucolipidosis II & III Alpha/Beta: GNPTAB Sequencing
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.,,,,,,,,,,,,,,,,,Mucolipidosis II/III Enzyme Panel (DBS),Mucolipidosis II/III Enzyme Panel (Plasma),Mucolipidosis III Gamma: GNPTG Sequencing,Oligosaccharide Urine Analysis,
Metabolic Disorders
GNPTAB;
Mucolipidosis II also I-cell disease,Mucolipidosis III,
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Mucolipidosis II/III Enzyme Panel (DBS)
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 (DBS),This panel includes measurement of 3 enzymes.,,,,,,,,,,,,,,,,,Mucolipidosis II/III Enzyme Panel (Plasma),Mucolipidosis II & III Alpha/Beta: GNPTAB Sequencing,Mucolipidosis III Gamma: GNPTG Sequencing,Oligosaccharide Urine Analysis,
Metabolic Disorders
Mucolipidosis II also I-cell disease,Mucolipidosis III,
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Mucolipidosis II/III Enzyme Panel (Plasma)
Mucolipidosis II/III Enzyme Panel (Plasma)
This test measures the enzyme activity of three hydrolases to make a diagnosis of mucolipidosis.
Mucolipidosis II/III Enzyme Panel (Plasma),Elevated activity of lysosomal hydrolases in plasma is consistent with a diagnosis of mucolipidosis type II/III.,,,,,,,,,,,,,,,,,Mucolipidosis II/III Enzyme Panel (DBS),Mucolipidosis II & III Alpha/Beta: GNPTAB Sequencing,Mucolipidosis III Gamma: GNPTG Sequencing,
Genetics and Dysmorphology, Metabolic Disorders
Mucolipidosis II also I-cell disease,Mucolipidosis III,
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Mucolipidosis III Gamma: GNPTG Sequencing
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 .,,,,,,,,,,,,,,,,,Mucolipidosis II/III Enzyme Panel (DBS),Mucolipidosis II/III Enzyme Panel (Plasma),Mucolipidosis II & III Alpha/Beta: GNPTAB Sequencing,Oligosaccharide Urine Analysis,
Metabolic Disorders
GNPTG;
Mucolipidosis III,
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Mucopolysaccharidosis (MPS) Enzyme Panel (DBS)
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders
Hurler Syndrome (MPS I),Hunter Syndrome (MPS II),16q24.3 microdeletion syndrome,Morquio syndrome A (MPS IVA),Morquio syndrome B (MPS IVB),Maroteaux-Lamy syndrome (MPSVI),Sly Syndrome (MPS VII),Mucolipidosis II also I-cell disease,Mucolipidosis III,
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Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS)
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.,,,,,,,,,,,,,,,,,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),
Metabolic Disorders
Hurler Syndrome (MPS I),Hunter Syndrome (MPS II),Sanfilippo syndrome A (MPS IIIA),Sanfilippo syndrome B (MPS IIIB),Sanfilippo syndrome C (MPS IIIC),Sanfilippo syndrome D (MPS IIID),Morquio syndrome A (MPS IVA),Morquio syndrome B (MPS IVB),Maroteaux-Lamy syndrome (MPSVI),Sly Syndrome (MPS VII),
H
Hurler/Hunter Syndrome (MPS I/II): Urine Monitoring (Total GAGs, DS, HS)
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/Hunter Syndrome (MPS I/II): Urine Monitoring (Total GAGs, DS, 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 dermatan and heparan sulfate (uDS, uHS) 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,Hurler Syndrome (MPS I): IDUA Sequencing,Hunter Syndrome (MPS II): Iduronate-2-Sulfatase Enzyme Analysis,Hunter Syndrome (MPS II): IDS Deletion/Duplication MLPA,Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel (DBS),
Metabolic Disorders
Hurler Syndrome (MPS I),Hunter Syndrome (MPS II),
H
Hurler Syndrome (MPS I): Alpha-iduronidase Enzyme Analysis
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.,,,,,,,,,,,,,,,,,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),
Metabolic Disorders
Hurler Syndrome (MPS I),
H
Hurler Syndrome (MPS I): IDUA Sequencing
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.,,,,,,,,,,,,,,,,,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),
Metabolic Disorders
IDUA;
Hurler Syndrome (MPS I),
H
Hunter Syndrome (MPS II): IDS Deletion/Duplication MLPA
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.,,,,,,,,,,,,,,,,,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),
Metabolic Disorders
IDS;
Hunter Syndrome (MPS II),
H
Hunter Syndrome (MPS II): IDS Sequencing
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.,,,,,,,,,,,,,,,,,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),
Metabolic Disorders
IDS;
Hunter Syndrome (MPS II),
S
Sanfilippo Syndrome (MPS III) Enzyme Panel
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.,,,,,,,,,,,,,,,,,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),
Metabolic Disorders, Neurology
Sanfilippo syndrome A (MPS IIIA),Sanfilippo syndrome B (MPS IIIB),Sanfilippo syndrome C (MPS IIIC),Sanfilippo syndrome D (MPS IIID),
S
Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, 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).,,,,,,,,,,,,,,,,,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,
Metabolic Disorders, Neurology
Sanfilippo syndrome A (MPS IIIA),Sanfilippo syndrome B (MPS IIIB),Sanfilippo syndrome C (MPS IIIC),Sanfilippo syndrome D (MPS IIID),
S
Sanfilippo Syndrome A (MPS IIIA): Heparan-N-Sulfatase Enzyme Analysis
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders
Sanfilippo syndrome A (MPS IIIA),
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Sanfilippo Syndrome A (MPS IIIA): SGSH Sequencing
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders
SGSH;
Sanfilippo syndrome A (MPS IIIA),
S
Sanfilippo Syndrome B (MPS IIIB): N-Acetyl-Alpha-Glucosaminidase Enzyme Analysis
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.,,,,,,,,,,,,,,,,,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),
Metabolic Disorders
Sanfilippo syndrome B (MPS IIIB),
S
Sanfilippo Syndrome B (MPS IIIB): NAGLU Sequencing
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders
NAGLU;
Sanfilippo syndrome B (MPS IIIB),
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Sanfilippo Syndrome C (MPS IIIC): Acetyl CoA Glucosamine N-Acetyltransferase Enzyme Analysis
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders, Neurology
Sanfilippo syndrome C (MPS IIIC),
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Sanfilippo Syndrome C (MPS IIIC): HGSNAT Sequencing
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.,,,,,,,,,,,,,,,,,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),
Metabolic Disorders, Neurology
HGSNAT;
Sanfilippo syndrome C (MPS IIIC),
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Sanfilippo Syndrome D (MPS IIID): GNS Sequencing
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders, Neurology
GNS;
Sanfilippo syndrome D (MPS IIID),
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Sanfilippo Syndrome D (MPS IIID): N-Acetylglucosamine-6-Sulfatase Enzyme Analysis
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.,,,,,,,,,,,,,,,,,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),
Metabolic Disorders, Neurology
Sanfilippo syndrome D (MPS IIID),
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Morquio Syndrome (MPS IV) Enzyme Panel
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.,,,,,,,,,,,,,,,,,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),
Metabolic Disorders, Musculoskeletal and Connective Tissue Disorders
Morquio syndrome IV (MPS IV),Morquio syndrome A (MPS IVA),Morquio syndrome B (MPS IVB),
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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 (MPS IV): Urine Monitoring (Total GAGs, KS, CS),Quantitative total glycosaminoglycans can be used to monitor patients with any MPS disorder in combination with the specific components listed below Quantitative analysis of keratan and chondroitin sulfate (uKS, uCS) can be used as a monitoring tool for patients with Morquio syndrome (MPS IV).,,,,,,,,,,,,,,,,,
Metabolic Disorders
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Morquio Syndrome A (MPS IVA): GALNS Sequencing
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): GALNS Sequencing,GALNS sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IVA (MPSIVA), Morquio syndrome A .,,,,,,,,,,,,,,,,,
Metabolic Disorders
GALNS;
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Morquio Syndrome A (MPS IVA): N-Acetylgalactosamine-6-Sulfatase Enzyme Analysis
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.,,,,,,,,,,,,,,,,,
Metabolic Disorders
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Morquio Syndrome B (MPS IVB), GM1 Gangliosidosis: Beta-galactosidase Enzyme Analysis
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders
Morquio syndrome B (MPS IVB),GM1 gangliosidosis,
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Morquio Syndrome B (MPS IVB), GM1 Gangliosidosis: GLB1 Sequencing
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.
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.,,,,,,,,,,,,,,,,,
Metabolic Disorders
GLB1;
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Maroteaux-Lamy Syndrome (MPS VI): ARSB Sequencing
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.,,,,,,,,,,,,,,,,,
Metabolic Disorders
ARSB;
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Maroteaux-Lamy Syndrome (MPS VI): Arylsulfatase B Enzyme Analysis
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.,,,,,,,,,,,,,,,,,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),
Metabolic Disorders, Musculoskeletal and Connective Tissue Disorders
Maroteaux-Lamy syndrome (MPSVI),
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Maroteaux-Lamy Syndrome (MPS VI): Urine Monitoring (Total GAGs, DS)
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).
Maroteaux-Lamy Syndrome (MPS VI): Urine Monitoring (Total GAGs, DS),Quantitative total glycosaminoglycans and dermatan sulfate (uDS) component GAGs can be used to monitor patients with with Maroteaux Lamy syndrome (MPS VI).,,,,,,,,,,,,,,,,,Maroteaux-Lamy Syndrome (MPS VI): Arylsulfatase B Enzyme Analysis,Maroteaux-Lamy Syndrome (MPS VI): ARSB Sequencing,Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel (DBS),
Metabolic Disorders
Maroteaux-Lamy syndrome (MPSVI),
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Sly Syndrome (MPS VII): Beta-glucuronidase Enzyme Analysis
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.,,,,,,,,,,,,,,,,,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),
Metabolic Disorders
Sly Syndrome (MPS VII),
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Sly Syndrome (MPS VII): GUSB Sequencing
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders
GUSB;
Sly Syndrome (MPS VII),
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Sly Syndrome (MPS VII): Urine Monitoring (Total GAGs, DS, CS)
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).,,,,,,,,,,,,,,,,,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),
Metabolic Disorders
Sly Syndrome (MPS VII),
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Multiple Sulfatase Deficiency Enzyme Panel
Multiple Sulfatase Deficiency Enzyme Panel
This panel of enzymes is intended for patients with a diagnosis or clinical suspicion of Multiple Sulfatase Deficiency.
Multiple Sulfatase Deficiency Enzyme Panel,This panel of 3 sulfatase enzymes is intended for patients with a diagnosis or clinical suspicion of Multiple Sulfatase Deficiency.,,,,,,,,,,,,,,,,,Mucopolysaccharidosis (MPS) Enzyme Panel,
Metabolic Disorders
Multiple Sulfatase Deficiency,
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Myotonic Dystrophy: DMPK Trinucleotide Repeat Analysis
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.,,,,,,,,,,,,,,,,,
Neurology
DMPK;
Myotonic dystrophy Type 1 (DM1),
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Myotubular Myopathy, X-Linked: MTM1 Sequencing
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.,,,,,,,,,,,,,,,,,Myotubular Myopathy, X-Linked: MTM1 Sequencing,X-Linked Intellectual Disability (XLID) NGS Panel,Creatine Kinase Analysis,Creatine Kinase Analysis,
Neurology
MTM1;
Myotubular myopathy,
N
Neurological Enzyme Panel
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.,,,,,,,,,,,,,,,,,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 (MLD): 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,
Metabolic Disorders, Neurology
Fabry Disease,Gaucher Disease,GM1 gangliosidosis,Krabbe Disease also Galactocerebrosidase Deficiency,Metachromatic Leukodystrophy (MLD),Neuronal Ceroid Lipofuscinosis Type 1 (CLN1),Neuronal Ceroid Lipofuscinosis Type 2 (CLN2),Niemann-Pick disease A/B,Tay-Sachs Disease,Sandhoff Disease,
N
Neuromuscular Disorders NGS Panel
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).,,,,,,,,,,,,,,,,,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,Exon-Level 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,
Musculoskeletal and Connective Tissue Disorders, Neurology
ACTA1; AGK; AMPD1; ANO5; ATP2A1; ATP7A; B3GALNT2; B4GAT1; BAG3; BICD2; BIN1; BSCL2; CACNA1S; CAPN3; CAV3; CAVIN1; CCDC78; CFL2; CHAT; CHKB; CHRNA1; CHRNB1; CHRND; CHRNE; CHRNG; CLCN1; CNTN1; COL12A1; COL6A1; COL6A2; COL6A3; COLQ; CRPPA; CRYAB; DAG1; DCTN1; DES; DMD; DNAJB6; DNM2; DNMT1; DOK7; DPM1; DPM2; DPM3; DYNC1H1; DYSF; EMD; FBXL4; FHL1; FIG4; FKRP; FKTN; FLNC; GAA; GAN; GARS1; GLE1; GMPPB; GNE; HINT1; HNRNPDL; HSPB1; HSPB8; IGHMBP2; ITGA7; KBTBD13; KLHL40; KLHL41; LAMA2; LAMP2; LARGE1; LAS1L; LDB3; LIMS2; LMNA; LMOD3; MATR3; MEGF10; MGME1; MTM1; MTMR14; MUSK; MYF6; MYH2; MYH7; MYOT; NEB; PABPN1; PHKA1; PLEC; PLEKHG5; PMM2; PNPLA2; POLG; POLG2; POMGNT1; POMGNT2; POMK; POMT1; POMT2; PYGM; RAPSN; REEP1; RRM2B; RXYLT1; RYR1; SCN4A; SELENON; SETX; SGCA; SGCB; SGCD; SGCE; SGCG; SIL1; SLC25A4; SLC5A7; SMCHD1; SPEG; STAC3; SUCLA2; SUCLG1; SYNE1; SYNE2; TCAP; TIA1; TK2; TMEM43; TNNI2; TNNT1; TNPO3; TOR1AIP1; TPM2; TPM3; TRAPPC11; TRIM32; TRPV4; TTN; TWNK; TYMP; UBA1; VCP; VRK1
Nemaline myopathy,Arthrogryposis,Bethlem myopathy,Centronuclear Myopathy,Charcot-Marie-Tooth disease,Congenital Myasthenic syndrome,Congenital Disorder of Glycosylation,Dystonia,Fetal akinesia deformation sequence,Mitochondrial DNA Depletion Syndrome,Multiple pterygium syndrome,Myotonia congenita,Myotubular myopathy,Periodic paralysis,Spastic Paraplegia,Emery-Dreifuss muscular dystrophy,Congenital fiber-type disproportion myopathy,Myoadenylate deaminase deficiency,Miyoshi muscular dystrophy,Limb-girdle muscular dystrophy,Brody myopathy,Menkes,Muscular dystrophy-dystroglycanopathy,Myofibrillar myopathy,Progressive Encephalopathy,Distal hereditary motor neuronopathy,Silver spastic paraplegia syndrome,Tateyama type of distal myopathy,Rippling Muscle Disease,Escobar syndrome,Myotonia levior,Compton-North congenital myopathy,Ullrich congenital muscular dystrophy,Congenital myosclerosis,Perry syndrome,Scapuloperoneal myopathy,Becker/Duchenne muscular dystrophy,Lethal congenital contracture syndrome,Autosomal dominant cerebellar ataxia, deafness, and narcolepsy,Reducing body myopathy,Yunis-Varon syndrome,Giant axonal neuropathy,Congenital arthrogryposis with anterior horn cell disease,Nonaka myopathy,Neuromyotonia and axonal neuropathy,Danon Disease,Wilson-Turner syndrome,Proximal myopathy and ophthalmoplegia,Laing distal myopathy,Myosin storage myopathy,Spheroid body myopathy,Oculopharyngeal muscular dystrophy,Muscle glycogenosis,Neutral lipid storage disease with myopathy,Congenital generalized lipodystrophy,McArdle Disease,Central core disease,King-Denborough syndrome,Minicore myopathy with external ophthalmoplegia,Hyperkalemic periodic paralysis,Paramyotonia congenita,Rigid spine muscular dystrophy,Myoclonic dystonia,Marinesco-Sjogren syndrome,Facioscapulohumeral muscular dystrophy,Welander distal myopathy,CAP myopathy,Metatropic dysplasia,Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia,Pontocerebellar hypoplasia,Progressive External Ophthalmoplegia,Sengers syndrome,Mitochondrial recessive ataxia syndrome,
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Neuronal Ceroid Lipofuscinoses NGS Panel
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).,,,,,,,,,,,,,,,,,Exon-Level 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,
Metabolic Disorders, Neurology
CLN3; CLN5; CLN6; CLN8; CTSD; DNAJC5; MFSD8; PPT1; TPP1;
Neuronal Ceroid Lipofuscinosis,Neuronal Ceroid Lipofuscinosis Type 1 (CLN1),Neuronal Ceroid Lipofuscinosis Type 2 (CLN2),Neuronal Ceroid Lipofuscinosis Type 3 Batten Disease,
N
Neuronal Ceroid Lipofuscinosis 1 (CLN1): Palmitoyl-Protein Thioesterase 1 Enzyme 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.,,,,,,,,,,,,,,,,,Lysosomal Storage Disease NGS Panel,Neurological Enzyme Panel,Neuronal Ceroid Lipofuscinoses NGS Panel,Neuronal Ceroid Lipofuscinosis 1 (CLN1): PPT1 Sequencing,
Metabolic Disorders, Neurology
Neuronal Ceroid Lipofuscinosis Type 1 (CLN1),
N
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).,,,,,,,,,,,,,,,,,Lysosomal Storage Disease NGS Panel,Neurological Enzyme Panel,Neuronal Ceroid Lipofuscinoses NGS Panel,Neuronal Ceroid Lipofuscinosis 1 (CLN1): Palmitoyl-Protein Thioesterase 1 Enzyme Analysis,
Metabolic Disorders, Neurology
PPT1;
Neuronal Ceroid Lipofuscinosis Type 1 (CLN1),
N
Neuronal Ceroid Lipofuscinosis 2 (CLN2): TPP1 Sequencing
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).,,,,,,,,,,,,,,,,,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,
Metabolic Disorders, Neurology
TPP1;
Neuronal Ceroid Lipofuscinosis Type 2 (CLN2),
N
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders, Neurology
Neuronal Ceroid Lipofuscinosis Type 2 (CLN2),
N
Niemann-Pick Disease A/B: Acid Sphingomyelinase Enzyme Analysis
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders
Niemann-Pick disease A/B,
N
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders
SMPD1;
Niemann-Pick disease A/B,
N
Non-Syndromic Craniosynostosis (also Muenke): FGFR3 Targeted 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).,,,,,,,,,,,,,,,,,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,
Musculoskeletal and Connective Tissue Disorders
FGFR3;
Muenke syndrome,
O
Ocular Albinism & Hermansky-Pudlak Syndrome NGS Panel
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).,,,,,,,,,,,,,,,,,Exon-Level Microarray: 2-10 Genes,Hermansky-Pudlak Syndrome & Pulmonary Fibrosis NGS Panel,QUICK Analysis,
Ophthalmology
AP3B1; BLOC1S3; BLOC1S6; DTNBP1; GPR143; HPS1; HPS3; HPS4; HPS5; HPS6; LRMDA; LYST; MC1R; OCA2; SLC24A5; SLC45A2; TYR; TYRP1;
Hermansky-Pudlak syndrome,Oculocutaneous albinism,Chediak-Higashi syndrome,
O
Oligosaccharide Urine 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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders
Alpha-mannosidosis,Aspartylglucosaminuria,Beta-mannosidosis,Fucosidosis,Galactosialidosis,GM1 gangliosidosis,Morquio syndrome B (MPS IVB),Schindler Disease also Kanzaki Disease,Sialidosis also Mucolipidosis type I (ML I),
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Oligosaccharidoses Enzyme Panel
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders
Alpha-mannosidosis,Aspartylglucosaminuria,Beta-mannosidosis,Fucosidosis,GM1 gangliosidosis,Schindler Disease also Kanzaki Disease,Sialidosis also Mucolipidosis type I (ML I),
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Optic Atrophy & Early Glaucoma NGS Panel
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).,,,,,,,,,,,,,,,,,Exon-Level Microarray: 2-10 Genes,Focused NGS - Panel,POLG1-Related Disorders: POLG1 Sequencing,QUICK Analysis,
Ophthalmology
ACO2; ACVR1; ASB10; AUH; BEST1; CANT1; CISD2; COL4A1; CYP1B1; FOXC1; FOXE3; LMX1B; LTBP2; MAF; MFRP; MTPAP; MTRFR; MYOC; NDUFS1; NR2F1; OPA1; OPA3; OPTN; PAX6; PITX2; PITX3; POLG; SBF2; SH3PXD2B; SLC4A4; SPG7; TBK1; TMEM126A; WFS1
Axenfeld-Rieger syndrome,Behr syndrome,Infantile cerebellar, retinal degeneration,Iris hypoplasia and glaucoma,Optic nerve hypoplasia,Congenital primary aphakia,Glaucoma,Mitochondrial complex I deficiency,Nail-patella syndrome,Renal tubular acidosis, proximal, with ocular abnormalities,Progressive External Ophthalmoplegia,Optic nerve hypoplasia,Wolfram syndrome,Optic atrophy,Fibrodysplasia ossificans progressiva,Frank-ter Haar syndrome,Ayme-Gripp syndrome,Desbuquois dysplasia,Microspherophakia,Anterior segment mesenchymal dysgenesis,Bosch-Boonstra-Schaaf optic atrophy syndrome,Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma,Brain small vessel disease with or without ocular anomalies,
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Organic Acid Analysis
Organic Acid Analysis
Urine organic acid analysis is general biochemical screen used to detect a variety of inborn errors of metabolism.
Organic Acid Analysis,Organic acids are involved in many metabolic processes within the cell. With certain genetic disorders, there may be abnormal concentrations of organic acids that are present in blood or other body fluids. Organic acid analysis is usually carried out on urine since many of the abnormal compounds will not be observed in other tissues.,,,,,,,,,,,,,,,,,
Metabolic Disorders
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Ornithine Transcarbamylase Deficiency: OTC Sequencing
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.,,,,,,,,,,,,,,,,,Exon-Level Microarray: Single Gene Analysis,Orotic Acid Analysis,
Metabolic Disorders
OTC;
Ornithine transcarbamylase (OTC) deficiency,
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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.
Orotic Acid Analysis,Orotic acid is a chemical overproduced in an alternative pathway when there is a block in the urea cycle. Excessive amounts of orotic acid are usually found in OTC (ornithine transcarbamylase) deficiency, citrullinemia, and often in argininosuccinic aciduria. Orotic acid determination is useful in delineating the cause of hyperammonemia.,,,,,,,,,,,,,,,,,Citrullinemia Type 1: ASS1 Sequencing,Ornithine Transcarbamylase Deficiency: OTC Sequencing,
Metabolic Disorders
Ornithine transcarbamylase (OTC) deficiency,Citrullinemia Type 1,Argininosuccinic aciduria,
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Overgrowth/Macrocephaly NGS Panel
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).,,,,,,,,,,,,,,,,,Beckwith-Wiedemann Syndrome Methylation-Specific MLPA,Beckwith-Wiedemann Syndrome (BWS): CDKN1C Sequencing,Borjeson-Forssman-Lehmann Syndrome: PHF6 Sequencing,Exon-Level Microarray: 2-10 Genes,Focused NGS - Panel,GLI3-Related Disorders: GLI3 Sequencing,PTEN-Related Disorders: PTEN Sequencing,QUICK Analysis,Sotos Syndrome: NSD1 Sequencing,
Dysmorphology and Genetics
BRWD3; CDKN1C; CUL4B; DNMT3A; EED; EZH2; GLI3; GPC3; MED12; NFIX; NSD1; PHF6; PTCH1; PTEN; RNF135; UPF3B
Bannayan-Riley-Ruvalcaba syndrome,Borjeson-Forssman-Lehmann syndrome,Cowden syndrome,FG Syndrome,Greig Cephalopolysyndactyly syndrome,Lujan-Fryns Syndrome,Marshall-Smith Syndrome,Simpson-Golabi-Behmel syndrome,Sotos syndrome,Tatton-Brown-Rahman Syndrome,Weaver Syndrome,Malan overgrowth syndrome,X-linked intellectual disability with marfanoid habitus,
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Pelizaeus-Merzbacher Disease, Spastic Paraplegia: PLP1 Deletion/Duplication MLPA
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.,,,,,,,,,,,,,,,,,Hereditary Spastic Paraplegia NGS Panel,Pelizaeus-Merzbacher Disease, Spastic Paraplegia: PLP1 Sequencing,X-Linked Intellectual Disability (XLID) NGS Panel,
Neurology
PLP1 ;
Pelizaeus-Merzbacher Disease,
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Pelizaeus-Merzbacher Disease, Spastic Paraplegia: PLP1 Sequencing
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.,,,,,,,,,,,,,,,,,Hereditary Spastic Paraplegia NGS Panel,Pelizaeus-Merzbacher Disease, Spastic Paraplegia: PLP1 Deletion/Duplication MLPA,X-Linked Intellectual Disability (XLID) NGS Panel,
Neurology
PLP1;
Pelizaeus-Merzbacher Disease,
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Peroxisomal Biogenesis Disorders 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).,,,,,,,,,,,,,,,,,Exon-Level Microarray: 2-10 Genes,Focused NGS - Panel,Lysosomal Storage Disease NGS Panel,QUICK Analysis,
Metabolic Disorders, Neurology
PEX1; PEX10; PEX12; PEX13; PEX14; PEX16; PEX19; PEX2; PEX26; PEX3; PEX5; PEX6;
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Phenylketonuria: PAH Sequencing
Phenylketonuria: PAH Sequencing
PAH sequencing is a molecular test used to identify variants in the gene associated with Phenylketonuria.
Phenylketonuria: PAH Sequencing,PAH sequencing is a molecular test used to identify variants in the gene associated with Phenylketonuria.,,,,,,,,,,,,,,,,,Amino Acid Analysis (CSF, Plasma, Urine),Exon-Level Microarray: Single Gene Analysis,
Metabolic Disorders
PAH;
Phenylketonuria (PKU),
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Pompe Disease, Glycogen Storage Disease Type II: Alpha-glucosidase Enzyme Analysis
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders, Musculoskeletal and Connective Tissue Disorders, Neurology
Pompe disease Glycogen Storage Disease Type II,
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Pompe Disease, Glycogen Storage Disease Type II: GAA Sequencing
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.,,,,,,,,,,,,,,,,,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,
Cardiology, Metabolic Disorders, Musculoskeletal and Connective Tissue Disorders, Neurology
GAA;
Pompe disease also Glycogen storage disease type II,
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Pompe Disease, Glycogen Storage Disease Type II: Glucose Tetrasaccharide (Glc4) Urine Monitoring
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.,,,,,,,,,,,,,,,,,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,
Metabolic Disorders, Neurology
Pompe disease also Glycogen storage disease type II,
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Prader-Willi Syndrome: (15q11q13) FISH Analysis
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. .,,,,,,,,,,,,,,,,,Angelman Syndrome Methylation-Specific MLPA,Whole-Genome SNP Microarray: Cytoscan HD Microarray,Whole-Genome SNP Microarray: Cytoscan Dx (FDA Cleared) Microarray,
Dysmorphology and Genetics, Neurology
Prader-Willi syndrome,
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Pregnancy Loss 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).,,,,,,,,,,,,,,,,,Whole-Genome SNP Microarray: Cytoscan HD Microarray,
Dysmorphology and Genetics
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Prenatal 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.,,,,,,,,,,,,,,,,,Pregnancy Loss Microarray,Whole-Genome SNP Microarray: Cytoscan HD Microarray,
Dysmorphology and Genetics
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Primary Carnitine Deficiency, Systemic: SLC22A5 Sequencing
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.,,,,,,,,,,,,,,,,,
Metabolic Disorders
SLC22A5;
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Primary Ciliary Dyskinesia & Cystic Fibrosis NGS Panel
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.,,,,,,,,,,,,,,,,,Comprehensive Pulmonary NGS Panel,Cystic Fibrosis: CFTR Sequencing,Exon-Level Microarray: 2-10 Genes,Focused NGS - Panel,QUICK Analysis,
Pulmonology
CCDC103; CCDC39; CCDC40; CCDC65; CCNO; CENPF; CFAP298; CFTR; DNAAF1; DNAAF11; DNAAF2; DNAAF3; DNAAF4; DNAAF5; DNAH1; DNAH11; DNAH5; DNAH8; DNAI1; DNAI2; DNAJB13; DNAL1; DRC1; GAS8; INVS; MCIDAS; NME8; ODAD1; ODAD2; ODAD3; ODAD4; OFD1; RPGR; RSPH1; RSPH3; RSPH4A; RSPH9; SCNN1A; SCNN1B; SCNN1G; SPAG1; ZMYND10
Bronchiectasis with or without elevated sweat chloride,Ciliary dyskinesia primary,Cystic Fibrosis,Infantile Nephronophthisis,Mucociliary clearance disorder,Pseudohypoaldosteronism,Retinitis pigmentosa,Simpson-Golabi-Behmel syndrome,Stromme syndrome,multiple morphological abnormalities of the sperm flagella,
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Prothrombin 20210A: F2 Targeted 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.,,,,,,,,,,,,,,,,,Factor V Leiden Thrombophilia: F5 Targeted Analysis,
Cardiology
F2;
Prothrombin thrombophilia,
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PTEN-Related Disorders: PTEN Deletion/Duplication MLPA
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.,,,,,,,,,,,,,,,,,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,
Genetics and Dysmorphology
PTEN;
Cowden syndrome,LEOPARD Syndrome,
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PTEN-Related Disorders: PTEN Sequencing
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..,,,,,,,,,,,,,,,,,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,
Genetics and Dysmorphology
PTEN;
Bannayan-Riley-Ruvalcaba syndrome,Cowden syndrome,
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PTEN-Related Disorders: PTEN Targeted Analysis
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.,,,,,,,,,,,,,,,,,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,
PTEN;
Syndromic Autism,Bannayan-Riley-Ruvalcaba syndrome,Cowden syndrome,
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PTPN11-Related Disorders: PTPN11 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.
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.,,,,,,,,,,,,,,,,,Exon-Level Microarray: Single Gene Analysis,RASopathy NGS Panel,
Dysmorphology and Genetics
PTPN11;
LEOPARD Syndrome,Noonan syndrome,
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Pulmonary Arterial Hypertension NGS Panel
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.,,,,,,,,,,,,,,,,,Comprehensive Pulmonary NGS Panel,Exon-Level Microarray: Single Gene Analysis,Exon-Level Microarray: More than 10 Genes,Focused NGS - Panel,QUICK Analysis,
Pulmonology
ABCA3; ACVRL1; AQP1; ATP13A3; BMPR1B; BMPR2; CAV1; EIF2AK4; ENG; FARSB; FBN1; FLNA; GDF2; KCNK3; KCNA5; KLF2; NF1; SMAD1; SMAD4; SMAD9; SOX17; TBX4
Childhood idiopathic pulmonary arterial hypertension.,Hereditary hemorrhagic telangiectasia,Primary Pulmonary hypertension,Pulmonary venoocclusive disease,Pulmonary surfactant metabolism dysfunction,Marfan syndrome,Geleophysic dysplasia,Neurofibromatosis,Juvenile polyposis,Ischiocoxopodopatellar syndrome,Neurodevelopmental disorder with brain, liver, and lung abnormalities,
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RASopathy NGS Panel
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).,,,,,,,,,,,,,,,,,Exon-Level Microarray: 2-10 Genes,Focused NGS - Panel,PTPN11-Related Disorders: PTPN11 Sequencing,QUICK Analysis,
Dysmorphology and Genetics
A2ML1; BRAF; CABIN1; CBL; HRAS; KAT6B; KRAS; LZTR1; MAP2K1; MAP2K2; NF1; NF2; NRAS; NSUN2; PTPN11; RAF1; RASA2; RIT1; RRAS; SHOC2; SOS1; SOS2; SPRED1
Cardio-facio-cutaneous syndrome,Costello syndrome,Legius syndrome,LEOPARD Syndrome,Neurofibromatosis,Noonan syndrome,Schwannomatosis,
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Retinitis Pigmentosa NGS Panel
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).
,,,,,,,,,,,,,,,,,Exon-Level Microarray: 2-10 Genes,Focused NGS - Panel,Neuronal Ceroid Lipofuscinosis 3, Batten Disease: CLN3 Sequencing,QUICK Analysis,
Ophthalmology
ABCA4; ABHD12; AGBL5; AIPL1; ARL2BP; ARL3; ARL6; BBS1; BBS2; BEST1; C1QTNF5; CA4; CDHR1; CEP290; CERKL; CFAP418; CHM; CLN3; CLRN1; CNGA1; CNGB1; CRB1; CRX; CYP4V2; DHDDS; DHX38; EMC1; EYS; FAM161A; FLVCR1; FSCN2; GUCA1B; GUCY2D; HK1; IDH3B; IFT140; IMPDH1; IMPG2; KIZ; KLHL7; LCA5; LRAT; MAK; MERTK; MFRP; MVK; NEK2; NEUROD1; NR2E3; NRL; OFD1; PCARE; PDE6A; PDE6B; PDE6G; POMGNT1; PRCD; PRKCG; PROM1; PRPF3; PRPF31; PRPF4; PRPF6; PRPF8; PRPH2; RBP4; RD3; RDH12; RGR; RHO; RLBP1; ROM1; RP1; RP1L1; RP2; RP9; RPE65; RPGR; RPGRIP1; SAG; SEMA4A; SLC7A14; SNRNP200; SPATA7; SPP2; TOPORS; TTC8; TULP1; USH2A; WDR19; ZNF408; ZNF513;
Bardet-Biedl syndrome,Cone-rod dystrophy,Joubert syndrome,Retinitis pigmentosa,Retinal degeneration,Choroideremia,Leber Congenital Amaurosis,Short-rib thoracic dysplasia,Usher syndrome,Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC),Retinal dystrophy, iris coloboma, and comedogenic acne syndrome,
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Rett Syndrome: MECP2 Deletion/Duplication MLPA
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.,,,,,,,,,,,,,,,,,Rett Syndrome: MECP2 Sequencing,Rett/Angelman Syndrome NGS Panel,
Neurology
MECP2;
Rett syndrome,
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Rett Syndrome: MECP2 Sequencing
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.,,,,,,,,,,,,,,,,,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,
Neurology
MECP2;
Rett syndrome,
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Rett Syndrome: MECP2 Targeted Mutation Analysis
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.,,,,,,,,,,,,,,,,,Rett/Angelman Syndrome NGS Panel,Rett Syndrome: MECP2 Deletion/Duplication MLPA,Rett Syndrome: MECP2 Sequencing,
Neurology
MECP2;
Rett syndrome,
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Rett/Angelman Syndrome NGS Panel
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).,,,,,,,,,,,,,,,,,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,Exon-Level 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,
Genetics and Dysmorphology, Neurology
ARX; FOXG1; PNKP; ATRX; MBD5; PQBP1; CDKL5; MECP2; SLC2A1; CNTNAP2; MEF2C; SLC9A6; CTNNB1; NRXN1; TCF4; EHMT1; OPHN1; UBE3A; FOLR1; PCDH19; ZEB2
Alpha-thalassemia X-Linked Intellectual Disability (ATRX),Angelman Syndrome,Pitt-Hopkins,Rett syndrome,
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Rhabdomyolysis & Metabolic Myopathies NGS Panel
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.,,,,,,,,,,,,,,,,,Carnitine Palmitoyltransferase II Deficiency: CPT2 Sequencing,Exon-Level 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,
Metabolic Disorders, Musculoskeletal and Connective Tissue Disorders
ACADM; ACADVL; AGL; ALDOA; AMPD1; ANO5; ATP2A1; CASQ1; CAV3; CPT2; CTDP1; DGUOK; DMD; DYSF; ENO3; ETFA; ETFB; ETFDH; FDX2; FKRP; FKTN; GAA; HADHA; HADHB; ISCU; LDHA; LPIN1; MT-CYB ; PFKM; PGAM2; PGK1; PGM1; PHKA1; PHKB; POLG; PYGM; RRM2B; RYR1; SCN4A; SIL1; SLC16A1; SLC25A20; SUCLA2; TK2; TSEN54; TSFM; TWNK
Carnitine Palmitoyltransferase II Deficiency,Combined oxidative phosphorylation deficiency,Congenital Cataracts Facial Dysmorphism and Neuropathy,Congenital Disorder of Glycosylation,Fatty Acid Oxidation Disorders,Glutaric aciduria type 2,Glycogen storage disease,Limb-girdle muscular dystrophy,Marinesco-Sjogren syndrome,Multiple acyl-coenzyme A,Mitochondrial complex III deficiency,Mitochondrial DNA Depletion Syndrome,Muscle AMP deaminase deficiency,Becker/Duchenne muscular dystrophy,Myoglobinuria,Myopathy,Pontocerebellar hypoplasia,Progressive External Ophthalmoplegia,RYR1-Related Malignant Hyperthermia Susceptibility,Anoctaminopathy 5,Medium-chain acyl-CoA dehydrogenase deficiency (MCAD),Brody Disease,Dehydrogenase Deficiency,Fukuyama Congenital Muscular Dystrophy,Pompe disease also Glycogen storage disease type II,Mitochondrial Trifunctional Protein Deficiency,Iron–Sulphur Cluster Deficiency,Phosphatidic Acid Phosphatase Deficiency,Erythrocyte Lactate Transporter Defect,Carnitine-Acylcarnitine Translocase Deficiency,Creatine Phosphokinase,Miyoshi muscular dystrophy,
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Russell-Silver Syndrome Methylation-Specific MLPA
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).,,,,,,,,,,,,,,,,,Chromosome 7 UPD Analysis,
Dysmorphology and Genetics
Russell-Silver syndrome (RSS),
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Saethre-Chotzen Syndrome: TWIST1 Deletion/Duplication MLPA
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.,,,,,,,,,,,,,,,,,Craniosynostosis NGS Panel,Saethre-Chotzen Syndrome: TWIST1 Sequencing,
TWIST1
Saethre-Chotzen syndrome,
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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.,,,,,,,,,,,,,,,,,Saethre-Chotzen Syndrome: TWIST1 Deletion/Duplication MLPA,
TWIST1
Saethre-Chotzen syndrome,
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Sandhoff Disease: HEXB Sequencing
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.,,,,,,,,,,,,,,,,,Tay-Sachs/Sandhoff Disease: Beta-hexosaminidase Enzyme Analysis,
Metabolic Disorders, Neurology
HEXB;
Sandhoff Disease,
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Schindler/Kanzaki Disease: Alpha-N-Acetylgalactosaminidase 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.,,,,,,,,,,,,,,,,,Lysosomal Storage Disease Enzyme Panel (DBS),Oligosaccharidoses Enzyme Panel,
Metabolic Disorders
Schindler Disease also Kanzaki Disease,
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Short-Chain Acyl-CoA Dehydrogenase Deficiency: ACADS Sequencing
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.,,,,,,,,,,,,,,,,,Exon-Level Microarray: Single Gene Analysis,
Metabolic Disorders
ACADS;
Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD),
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Sialic Acid Analysis, Total and Free
Sialic Acid Analysis, Total and Free
Elevated free sialic acid in urine is associated with infantile sialic acid storage disease and Salla disease.
Sialic Acid Analysis, Total and Free,Sialic acid is a small chemical that serves as a component of a number of more complex chemical structures in the human body. A disturbance in a gene responsible for sialic acid metabolism may lead to an abnormality reflected in sialic acid concentration in urine. Elevated free sialic acid in urine is associated with infantile sialic acid storage disease and Salla disease.,,,,,,,,,,,,,,,,,
Metabolic Disorders
Salla disease,Sialuria,
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Sialidosis: Alpha-Neuraminidase (Sialidase) Enzyme Analysis
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.,,,,,,,,,,,,,,,,,Hydrops Enzyme Panel,Non-Immune Hydrops NGS Panel,Lysosomal Storage Disease NGS Panel,Oligosaccharide Urine Analysis,Sialidosis: NEU1 Sequencing,
Metabolic Disorders
Sialidosis also Mucolipidosis type I (ML I),
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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 .,,,,,,,,,,,,,,,,,Lysosomal Storage Disease NGS Panel,Oligosaccharide Urine Analysis,Sialidosis: Alpha-Neuraminidase (Sialidase) Enzyme Analysis,
Metabolic Disorders
NEU1;
Sialidosis also Mucolipidosis type I (ML I),
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Skeletal Dysplasia NGS Panel
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).,,,,,,,,,,,,,,,,,Achondroplasia: FGFR3 Targeted Analysis,Exon-Level 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,
Musculoskeletal and Connective Tissue Disorders
COL10A1; COL1A1; COL1A2; COL2A1; COMP; FGFR3; FLNA; HSPG2; SLC26A2; SOX9; TRPV4
Achondroplasia,Arthrochalasia Ehlers-Danlos syndrome,Pseudoachondroplasia,Achondrogenesis type 1B,Frontometaphyseal dysplasia,Dyssegmental dysplasia, Silverman-Handmaker type,Campomelic dysplasia,AD Brachyolmia,Metaphyseal chondrodysplasia, Schmid type,
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Sotos Syndrome: NSD1 Deletion/Duplication MLPA
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.,,,,,,,,,,,,,,,,,Overgrowth/Macrocephaly NGS Panel,Sotos Syndrome: NSD1 Sequencing,
Dysmorphology and Genetics
NSD1;
Sotos syndrome,
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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.,,,,,,,,,,,,,,,,,Overgrowth/Macrocephaly NGS Panel,Sotos Syndrome: NSD1 Deletion/Duplication MLPA,
Dysmorphology and Genetics
NSD1;
Sotos syndrome,
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Spinal Muscular Atrophy: SMN1/SMN2 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.,,,,,,,,,,,,,,,,,Spinal Muscular Atrophy: SMN1 Sequencing,
Neurology
SMN1; SMN2
Spinal Muscular Atrophy (SMA),
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Storage Disease Panel
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.,,,,,,,,,,,,,,,,,
Metabolic Disorders
Alpha-mannosidosis,Beta-mannosidosis,Fucosidosis,Galactosialidosis,Morquio syndrome IV (MPS IV),Mucolipidosis II also I-cell disease,Hurler Syndrome (MPS I),Sanfilippo syndrome A (MPS IIIA),Sanfilippo syndrome B (MPS IIIB),Sanfilippo syndrome C (MPS IIIC),Sanfilippo syndrome D (MPS IIID),Maroteaux-Lamy syndrome (MPSVI),Sly Syndrome (MPS VII),Sandhoff Disease,Sialidosis also Mucolipidosis type I (ML I),Tay-Sachs Disease,
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Surfactant Dysfunction & Respiratory Distress in Premature Infants NGS Panel
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,,,,,,,,,,,,,,,,,Comprehensive Pulmonary NGS Panel,Exon-Level Microarray: Single Gene Analysis,Exon-Level Microarray: More than 10 Genes,Focused NGS - Panel,QUICK Analysis,
Pulmonology
ABCA3; CSF2RA; CSF2RB; FLNA; FOXF1; MARS1; NKX2-1; SFTPB; SFTPC; SLC7A7; STING1
Alveolar capillary dysplasia with misalignment of pulmonary veins,Choreoathetosis hypothyroidism and neonatal respiratory distress,Lysinuric protein intolerance,Pulmonary surfactant metabolism dysfunction,Interstitial lung and liver disease,Pediatric pulmonary alveolar proteinosis,STING-associated vasculopathy with onset in infancy,
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Syndromic Autism NGS Panel
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).,,,,,,,,,,,,,,,,,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,Exon-Level 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,
ADNP; ALDH5A1; AMT; AP1S2; ARID1B; ARX; ATRX; BCKDK; BRAF; CACNA1C; CASK; CDKL5; CHD7; CHD8; CNTNAP2; CREBBP; CTNNB1; DHCR7; DYRK1A; EHMT1; FGD1; FMR1; FOLR1; FOXG1; FOXP1; FOXP2; GABRB3; SLC2A1; GRIN2B; HDAC8; HOXA1; HPRT1; KDM5C; KIRREL3; L1CAM; LAMC3; MBD5; MECP2; MED12; MEF2C; MID1; NHS; NIPBL; NLGN3; NLGN4X; NRXN1; NSD1; NTNG1; OPHN1; PAFAH1B1; PCDH19; PHF6; PNKP; PQBP1; PTCHD1; PTEN; PTPN11; RAB39B; RAD21; RAI1; RELN; SCN1A; SCN2A; SETBP1; SETD2; SHANK3; SLC9A6; SMC1A; SMC3; STXBP1; SYNE1; TBL1XR1; TBR1; TCF4; TMEM231; TMLHE; TSC1; TSC2; TUBA1A; UBE3A; UBE3C; VPS13B; ZEB2;
Aarskog syndrome,Angelman Syndrome,Borjeson-Forssman-Lehmann syndrome,CASK related X-linked intellectual disability (CASK),CHARGE Syndrome,Cornelia de Lange syndrome,Noonan syndrome,Pitt-Hopkins,Rett syndrome,Smith Magenis Syndrome,Sotos syndrome,Tuberous sclerosis,X-Linked Hydrocephalus,Coffin-Siris syndrome,Partington syndrome,Alpha-thalassemia X-Linked Intellectual Disability (ATRX),Timothy Syndrome,X-linked intellectual disability, Najm type,Cortical dysplasia-focal epilepsy syndrome,Rubinstein-Taybi syndrome,Kleefstra syndrome,Fragile X syndrome,Childhood absence epilepsy,Bosley-Salih-Alorainy syndrome,Lesch-Nyhan syndrome,Occipital pachygyria and polymicrogyria,2q23.1 microdeletion syndrome,Nance-Horan syndrome,Lissencephaly,Dravet syndrome,Pierpont syndrome,Mowat-Wilson syndrome,
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Targeted Analysis: Known Familial Mutation
Targeted Analysis: Known Familial Mutation
Targeted known mutation analysis can be requested on a family member for any sequence variant identified by Sanger sequencing or Next Generation Sequencing (NGS).
Targeted Analysis: Known Familial Mutation,Targeted known mutation analysis can be requested on a family member for any sequence variant identified by Sanger sequencing or Next Generation Sequencing (NGS).,,,,,,,,,,,,,,,,,
Cardiology, Dysmorphology and Genetics, ENT, Hematology and Oncology, Metabolic Disorders, Musculoskeletal and Connective Tissue Disorders, Neurology, Ophthalmology, Pulmonology
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Targeted Infertility Microarray
Targeted Infertility Microarray
This test analyzes certain regions of the Y chromosome for deletions associated with male infertility.
Targeted Infertility Microarray,This test analyzes certain regions of the Y chromosome for deletions associated with male infertility.,,,,,,,,,,,,,,,,,
Dysmorphology and Genetics
Infertility,
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Tay-Sachs Disease: HEXA Sequencing
Tay-Sachs Disease: HEXA Sequencing
HEXA sequencing is a molecular test used to identify variants in the gene associated with Tay-Sachs Disease.
Tay-Sachs Disease: HEXA Sequencing,HEXA sequencing is a molecular test used to identify variants in the gene associated with Tay-Sachs Disease.,,,,,,,,,,,,,,,,,Lysosomal Storage Disease NGS Panel,Tay-Sachs/Sandhoff Disease: Beta-hexosaminidase Enzyme Analysis,
Metabolic Disorders, Neurology
HEXA;
Tay-Sachs Disease,
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Tay-Sachs/Sandhoff Disease: Beta-hexosaminidase Enzyme Analysis
Tay-Sachs/Sandhoff Disease: Beta-hexosaminidase Enzyme Analysis
This biochemical analysis of Beta-hexosaminidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Tay-Sachs/Sandhoff Disease.
Tay-Sachs/Sandhoff Disease: Beta-hexosaminidase Enzyme Analysis,This biochemical test is a quantitative measurement of beta-hexosaminidase A and beta-hexosaminidase B enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Tay-Sachs/Sandhoff Disease. Demonstration of deficient beta-hexosaminidase enzyme activity is considered the gold standard to confirm a diagnosis of Tay-Sachs/Sandhoff disease.,,,,,,,,,,,,,,,,,Lysosomal Storage Disease Enzyme Panel,Neurological Enzyme Panel,Sandhoff Disease: HEXB Sequencing,Tay-Sachs Disease: HEXA Sequencing,
Metabolic Disorders, Neurology
Tay-Sachs Disease,Sandhoff Disease,
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Thanatophoric Dysplasia Type I: FGFR3 Targeted Analysis
Thanatophoric Dysplasia Type I: FGFR3 Targeted Analysis
FGFR3 targeted analysis is a molecular test used to identify variants in the gene associated with Thanatophoric dyplasia type I.
Thanatophoric Dysplasia Type I: 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.,,,,,,,,,,,,,,,,,Achondroplasia: FGFR3 Targeted Analysis,Hypochondroplasia: FGFR3 Targeted Analysis,Skeletal Dysplasia NGS Panel,Thanatophoric Dysplasia Type II: FGFR3 Targeted Analysis,
Musculoskeletal and Connective Tissue Disorders
FGFR3;
Thanatophoric dysplasia type I,
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Thanatophoric Dysplasia Type II: FGFR3 Targeted Analysis
Thanatophoric Dysplasia Type II: FGFR3 Targeted Analysis
FGFR3 targeted analysis is a molecular test used to identify variants in the gene associated with Thanatophoric dyplasia type II .
Thanatophoric Dysplasia Type II: 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.,,,,,,,,,,,,,,,,,Achondroplasia: FGFR3 Targeted Analysis,Hypochondroplasia: FGFR3 Targeted Analysis,Skeletal Dysplasia NGS Panel,Thanatophoric Dysplasia Type I: FGFR3 Targeted Analysis,
Musculoskeletal and Connective Tissue Disorders
FGFR3;
Thanatophoric dysplasia type 2,
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Total Glycosaminoglycans (GAGs) Analysis
Total Glycosaminoglycans (GAGs) Analysis
This biochemical analysis is used to detect the presence of elevated concentrations of GAGs in a patient’s urine and is a useful initial screening tool in making a diagnosis of an MPS disorder.
Total Glycosaminoglycans (GAGs) Analysis,Patients with mucopolysaccharide (MPS) storage disorders cannot break down specific glycosaminoglycans (GAGs) in the lysosome, which results in their accumulation in body tissues and their abnormal excretion in the urine. The presence of elevated concentrations of GAGs in a patient's urine is a useful initial screening tool in making a diagnosis of an MPS disorder.,,,,,,,,,,,,,,,,,Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS),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),Mucopolysaccharidosis (MPS) Enzyme Panel,Mucopolysaccharidosis (MPS) Enzyme Panel (DBS),
Metabolic Disorders
Hurler Syndrome (MPS I),Hunter Syndrome (MPS II),Sanfilippo syndrome A (MPS IIIA),Sanfilippo syndrome B (MPS IIIB),Sanfilippo syndrome C (MPS IIIC),Sanfilippo syndrome D (MPS IIID),Morquio syndrome A (MPS IVA),Morquio syndrome B (MPS IVB),Maroteaux-Lamy syndrome (MPSVI),Sly Syndrome (MPS VII),
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TP63-Related Disorders: TP63 Sequencing
TP63-Related Disorders: TP63 Sequencing
TP63 sequencing is a molecular test used to identify variants in the gene associated with TP63-related disorders including Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome, Hay-Wells syndrome, and split-hand/split foot malformation.
TP63-Related Disorders: TP63 Sequencing,TP63 sequencing is a molecular test used to identify variants in the gene associated with TP63-related disorders including Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome, Hay-Wells syndrome, and split-hand/split foot malformation.,,,,,,,,,,,,,,,,,Exon-Level Microarray: Single Gene Analysis,
Genetics and Dysmorphology
TP63;
Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome,Isolated split-hand/split-foot malformation (SHFM),
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Trisomy FISH Screen (13,18,21,X,Y) (Blood)
Trisomy FISH Screen (13,18,21,X,Y) (Blood)
Trisomy Screen FISH analysis is a cytogenetic test used to identify aneuplodies involving chromosomes 13, 18, 21, X, and Y.
Trisomy FISH Screen (13,18,21,X,Y) (Blood),Trisomy Screen FISH analysis is a cytogenetic test used to identify aneuplodies involving chromosomes 13, 18, 21, X, and Y.,,,,,,,,,,,,,,,,,Chromosome Analysis, High Resolution (Blood),Chromosome Analysis, Routine (Blood),
Dysmorphology and Genetics
Trisomy 13,Trisomy 18,Trisomy 21 also Down syndrome,
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Tryptophan Analysis
Tryptophan Analysis
This test is a quantitative measurement of tryptophan.
Tryptophan Analysis,This test is a quantitative measurement tryptophan.,,,,,,,,,,,,,,,,,
Metabolic Disorders
Glutaric Acidemia type 1 (GA1),
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Vascular Malformation NGS Panel
Vascular Malformation NGS Panel
This panel of 21 genes is intended for patients with a diagnosis or clinical suspicion of Vascular Disorders.
Vascular Malformation NGS Panel,This panel of 21 genes is intended for patients with a diagnosis or clinical suspicion of Vascular 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.,,,,,,,,,,,,,,,,,Beckwith-Wiedemann Syndrome Methylation-Specific MLPA,Beckwith-Wiedemann Syndrome (BWS): CDKN1C Sequencing,Exon-Level Microarray: 2-10 Genes,Focused NGS - Panel,PTEN-Related Disorders: PTEN Deletion/Duplication MLPA,PTEN-Related Disorders: PTEN Deletion/Duplication MLPA,PTEN-Related Disorders: PTEN Sequencing,PTEN-Related Disorders: PTEN Targeted Analysis,QUICK Analysis,
Cardiology, Genetics and Dysmorphology, Hematology and Oncology
ACVRL1; CCBE1; CCM2; ENG; FLT4; FOXC2; GATA2; GDF2; GJC2; GLMN; KIF11; KRIT1; PDCD10; PTEN; PTPN14; RASA1; SMAD4; SOX18; STAMBP; TEK; VEGFC;
Bannayan-Riley-Ruvalcaba syndrome,Cowden syndrome,Capillary malformation-arteriovenous malformation,Cerebral cavernous malformations,Emberger syndrome Primary lymphedema with myelodysplasia,Glomuvenous malformations,Hennekam lymphangiectasia-lymphedema syndrome,Hereditary hemorrhagic telangiectasia,Hypotrichosis-lymphedema-telangiectasia syndrome,Juvenile polyposis,Lymphedema-distichiasis syndrome,Microcephaly-capillary malformation syndrome,Venous malformations,Choanal atresia and lymphedema,Hereditary lymphedema,CLOVE syndrome,
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Very Long Chain Fatty Acid Deficiency: ACADVL Sequencing
Very Long Chain Fatty Acid Deficiency: ACADVL Sequencing
ACADVL sequencing is a molecular test used to identify variants in the gene associated with Very Long Chain Fatty Acid Deficiency.
Very Long Chain Fatty Acid Deficiency: ACADVL Sequencing,ACADVL sequencing is a molecular test used to identify variants in the gene associated with Very Long Chain Fatty Acid Deficiency Deficiency.,,,,,,,,,,,,,,,,,Acylcarnitine Profile,
Metabolic Disorders
ACADVL;
Very Long Chain Fatty Acid Deficiency (VLCAD),
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X-Inactivation Studies
X-Inactivation Studies
X-Inactivation Studies,,,,,,,,,,,,,,,,,,
X
X-Linked Hydrocephalus: L1CAM Sequencing
X-Linked Hydrocephalus: L1CAM Sequencing
L1CAM sequencing is a molecular test used to identify variants in the gene associated with X-Linked Hydrocephalus.
X-Linked Hydrocephalus: L1CAM Sequencing,L1CAM sequencing is a molecular test used to identify variants in the gene associated with X-Linked Hydrocephalus.,,,,,,,,,,,,,,,,,Hereditary Spastic Paraplegia NGS Panel,Syndromic Autism NGS Panel,X-Linked Intellectual Disability (XLID) NGS Panel,
Genetics and Dysmorphology, Neurology
L1CAM;
X-Linked Hydrocephalus,
X
X-Linked Intellectual Disability (XLID) NGS Panel
X-Linked Intellectual Disability (XLID) NGS Panel
This panel of 114 genes is intended for patients with a diagnosis or clinical suspicion of X-Linked Intellectual Disability (XLID).
X-Linked Intellectual Disability (XLID) NGS Panel,This panel of 114 genes is intended for patients with a diagnosis or clinical suspicion of X-Linked Intellectual Disability (XLID) and is performed by Next Generation Sequencing (NGS). This molecular test is also used to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.,,,,,,,,,,,,,,,,,Aarskog Syndrome: FGD1 Sequencing,Adrenoleukodystrophy, X-Linked: ABCD1 Sequencing,ARX-Related Spectrum of X-Linked Intellectual Disability (XLID): ARX Sequencing,Borjeson-Forssman-Lehmann Syndrome: PHF6 Sequencing,CASK-Related X-Linked Intellectual Disability (XLID): CASK Sequencing,Coffin-Lowry Syndrome: RPS6KA3 Sequencing,Copper Transport Disorders: ATP7A Sequencing,Exon-Level Microarray: 2-10 Genes,FLNA-Related Disorders: FLNA Sequencing,Focused NGS - Single Gene,Focused NGS - Panel,Fragile X Syndrome: FMR1 Trinucleotide Repeat Analysis,Hunter Syndrome (MPS II): IDS Deletion/Duplication MLPA,Ornithine Transcarbamylase Deficiency: OTC Sequencing,Pelizaeus-Merzbacher Disease, Spastic Paraplegia: PLP1 Sequencing,QUICK Analysis,Rett Syndrome: MECP2 Sequencing,Rett Syndrome: MECP2 Sequencing,X-Linked Hydrocephalus: L1CAM Sequencing,
ABCD1; ACSL4; AFF2; AGTR2; AIFM1; AP1S2; ARHGEF6; ARHGEF9; ARX; ATP6AP2; ATP7A; ATRX; BCOR; BRWD3; CASK; CCDC22; CDK16; CDKL5; CLCN4; CLIC2; CNKSR2; CUL4B; DCX; DKC1; DLG3; DMD; EBP; EIF2S3; FAAH2; FANCB; FGD1; FLNA; FMR1; FRMPD4; FTSJ1; GDI1; GK; GPC3; GRIA3; GSPT2; HCCS; HCFC1; HDAC8; HPRT1; HSD17B10; HUWE1; IDS; IGBP1; IL1RAPL1; IQSEC2; KDM5C; KLF8; L1CAM; LAMP2; LAS1L; MAGT1; MAOA; MBTPS2; MECP2; MED12; MID1; MTM1; NAA10; NDP; NDUFA1; NEXMIF; NHS; NLGN3; NLGN4X; NSDHL; OCRL; OFD1; OGT; OPHN1; OTC; PAK3; PCDH19; PHF6; PHF8; PLP1; PORCN; PQBP1; PRPS1; PTCHD1; RAB39B; RAB40AL; RBM10; RPL10; RPS6KA3; SHROOM4; SLC16A2; SLC9A6; SMC1A; SMS; SOX3; SRPX2; SYN1; SYP; TAF1; THOC2; TIMM8A; TSPAN7; UBE2A; UPF3B; USP9X; WDR13; ZC4H2; ZCCHC12; ZDHHC15; ZDHHC9; ZMYM3; ZNF41; ZNF711; ZNF81
Aarskog syndrome,Adrenoleukodystrophy X-linked,Alpha-thalassemia X-Linked Intellectual Disability (ATRX),Borjeson-Forssman-Lehmann syndrome,CASK related X-linked intellectual disability (CASK),Coffin-Lowry syndrome,Copper Transport Disorders,Cornelia de Lange syndrome,Duchenne Muscular Dystrophy,FG Syndrome,Fragile X syndrome,Hunter Syndrome (MPS II),Ornithine transcarbamylase (OTC) deficiency,Orofaciodigital syndrome,Pelizaeus-Merzbacher Disease,Rett syndrome,X-Linked Hydrocephalus,X-Linked Opitz G/BBB syndrome,X-linked Periventricular Heterotopia,X-linked Intellectual Disability (XLID),
S
Spinal Muscular Atrophy: SMN1 Sequencing
Spinal Muscular Atrophy: SMN1 Sequencing
SMN1 sequencing is a molecular test used to identify sequence alterations in the gene associated with Spinal Muscular Atrophy, SMA.
Spinal Muscular Atrophy: SMN1 Sequencing,SMN1 sequencing is a molecular test used to identify sequence alterations in the gene associated with Spinal Muscular Atrophy, SMA.,,,,,,,,,,,,,,,,,Spinal Muscular Atrophy: SMN1/SMN2 Deletion/Duplication MLPA,
Neurology
SMN1;
Spinal Muscular Atrophy (SMA),
T
Trisomy FISH Screen (13,18,21,X,Y) (Amniotic Fluid)
Trisomy FISH Screen (13,18,21,X,Y) (Amniotic Fluid)
Trisomy Screen FISH analysis is a cytogenetic test used to identify aneuplodies involving chromosomes 13, 18, 21, X, and Y.
Trisomy FISH Screen (13,18,21,X,Y) (Amniotic Fluid),Trisomy Screen FISH analysis is a cytogenetic test used to identify aneuplodies involving chromosomes 13, 18, 21, X, and Y.,,,,,,,,,,,,,,,,,Prenatal Microarray,
Genetics and Dysmorphology
Trisomy 13,Trisomy 18,Trisomy 21 also Down syndrome,
Q
QUICK Analysis
QUICK Analysis
The QUICK Analysis is Greenwood’s free NGS-reflex analysis that rapidly screens full exome data for pathogenic alterations when panel results are negative.
QUICK Analysis,The QUICK Analysis is Greenwood's free NGS-reflex analysis that rapidly screens full exome data for pathogenic alterations when panel results are negative. The QUICK Analysis increases the yield of cost-effective gene panel tests. By screening variants based on molecular criteria first and reviewing the phenotype second, QUICK is good at picking up new or poorly characterized genes. While the QUICK Analysis is not as thorough as a whole exome analysis, we have found it effective in expediting a diagnosis for a growing number of patients.
,,,,,,,,,,,,,,,,,Bardet-Biedl Syndrome NGS Panel,Coffin-Siris Syndrome NGS Panel,Comprehensive Cardiac NGS Panel,Comprehensive Pulmonary NGS Panel,Congenital Contractures NGS Panel,Connective Tissue Disorders NGS Panel,Cornelia de Lange Syndrome NGS Panel,Epilepsy/Seizure NGS Panel,Focused NGS - Panel,Hearing Loss NGS Panel,Hereditary Spastic Paraplegia NGS Panel,Non-Immune Hydrops NGS Panel,Lysosomal Storage Disease NGS Panel,Neuromuscular Disorders NGS Panel,Overgrowth/Macrocephaly NGS Panel,RASopathy NGS Panel,Rett/Angelman Syndrome NGS Panel,Rhabdomyolysis & Metabolic Myopathies NGS Panel,Syndromic Autism NGS Panel,X-Linked Intellectual Disability (XLID) NGS Panel,
C
Chromosome Analysis, High Resolution; Rule Out Mosaic (Blood)
Chromosome Analysis, High Resolution; Rule Out Mosaic (Blood)
Chromosome Analysis, High Resolution; Rule Out Mosaic (Blood),For high resolution chromosome analysis to rule out mosaicism, a minimum of 50 cells are counted, and 5 cells are analyzed for chromosome abnormalities. Because special culture conditions are required, high resolution studies must be specifically requested.,,,,,,,,,,,,,,,,,
Dysmorphology and Genetics
F
Familial Hypercholesterolemia NGS Panel
Familial Hypercholesterolemia NGS Panel
This panel of four genes is intended for patients with suspected or clinically diagnosed familial hypercholesterolemia, and it is performed by Next Generation Sequencing (NGS).
Familial Hypercholesterolemia NGS Panel,This panel of four genes is intended for patients with suspected or clinically diagnosed familial hypercholesterolemia, and it is performed by Next Generation Sequencing (NGS).,,,,,,,,,,,,,,,,,Familial Hypercholesterolemia: LDLR Deletion/Duplication MLPA,
Cardiology
APOB; LDLR; PCSK9; LDLRAP1
Familial Hypercholesterolemia,
M
Maturity-Onset Diabetes of the Young (MODY) NGS Panel
Maturity-Onset Diabetes of the Young (MODY) NGS Panel
This panel of 14 genes is intended for patients with suspected or clinically diagnosed maturity-onset diabetes of the young and some forms of familial hyperinsulinism, and it is performed by Next Generation Sequencing (NGS).
Maturity-Onset Diabetes of the Young (MODY) NGS Panel,This panel of 14 genes is intended for patients with suspected or clinically diagnosed maturity-onset diabetes of the young and some forms of familial hyperinsulinism, and it is performed by Next Generation Sequencing (NGS).,,,,,,,,,,,,,,,,,
Metabolic Disorders
ABCC8; APPL1; BLK; CEL; GCK; HNF1A; HNF1B; HNF4A; INS; KCNJ11; KLF11; NEUROD1; PAX4; PDX1
Maturity-Onset Diabetes of the Young (MODY),Familial hyperinsulinism,Fanconi renotubular syndrome,Diabetes mellitus,Leucine-sensitive hypoglycemia of infancy,
F
Familial Hypercholesterolemia: LDLR Deletion/Duplication MLPA
Familial Hypercholesterolemia: LDLR Deletion/Duplication MLPA
LDLR MLPA is a molecular test used to identify deletions or duplications in one of the genes associated with Familial Hypercholesterolemia.
Familial Hypercholesterolemia: LDLR Deletion/Duplication MLPA,,,,,,,,,,,,,,,,,,Familial Hypercholesterolemia NGS Panel,
Cardiology
LDLR
Familial Hypercholesterolemia,
T
Tuberous Sclerosis Complex (TSC) NGS Panel
Tuberous Sclerosis Complex (TSC) NGS Panel
This panel of two genes is intended for patients with suspected or clinically diagnosed tuberous sclerosis complex (TSC), and it is performed by Next Generation Sequencing (NGS).
Tuberous Sclerosis Complex (TSC) NGS Panel,,,,,,,,,,,,,,,,,,Exon-Level Microarray: 2-10 Genes,Epilepsy/Seizure NGS Panel,Syndromic Autism NGS Panel,
Neurology
TSC1; TSC2
Tuberous sclerosis,
K
Kallmann Syndrome & Hypogonadotropic Hypogonadism NGS Panel
Kallmann Syndrome & Hypogonadotropic Hypogonadism NGS Panel
This panel of 39 genes is intended for patients with a diagnosis of Kallmann syndrome or hypogonadotropic hypogonadism and is performed by Next Generation Sequencing (NGS).
Kallmann Syndrome & Hypogonadotropic Hypogonadism NGS Panel,,,,,,,,,,,,,,,,,,Kallmann Syndrome: (Xp22.3) FISH Analysis,
Dysmorphology and Genetics, Genetics and Dysmorphology
ANOS1; AXL; CCDC141; CHD7; DUSP6; FEZF1; FGF17; FGF8; FGFR1; FLRT3; FSHB; GNRH1; GNRHR; HESX1; HS6ST1; IL17RD; KISS1; KISS1R; LEP; LEPR; LHB; LHX3; LHX4; NR0B1; NSMF; PCSK1; POLR3B; PROK2; PROKR2; PROP1; SEMA3A; SEMA3E; SOX10; SOX2; SPRY4; SRA1; TAC3; TACR3; WDR11
Kallmann Syndrome,Hypogonadotropic hypogonadism,Isolated gonadotropin-releasing hormone deficiency,Combined pituitary hormone deficiency (CPHD),Leptin deficiency,Leptin receptor deficiency,Obesity with impaired prohormone processing,Hypomyelinating leukodystrophy,CHARGE Syndrome,Waardenburg syndrome,Central dysmyelination,Syndromic microphthalmia-3,Optic nerve hypoplasia and abnormalities of the central nervous system,
E
Exon-Level Microarray: More than 10 Genes
Exon-Level Microarray: More than 10 Genes
Exon-Level Microarray: More than 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,,,,,,,,,,,,,,,,,Exon-Level Microarray: Single Gene Analysis,Exon-Level Microarray: 2-10 Genes,
Dysmorphology and Genetics, Genetics and Dysmorphology
E
EpiSign Complete
EpiSign Complete
EpiSign Complete is the first clinical assay validated to detect unique epigenetic signatures and methylation abnormalities for over 70 recognized genetic conditions.
EpiSign Complete,EpiSign is a methylation assay designed to readily identify proven and reproducible epigenetic signatures by assessing genome-wide methylation. EpiSign has multiple applications in the clinical setting. EpiSign Complete is a comprehensive analysis that includes over 50 genes and disorders indicated below. This assay can detect multiple methylation abnormalities associated with certain imprinting or triplet repeat conditions. Abnormalities detected using this initial screen may require additional targeted testing to confirm and further characterize the underlying genomic abnormality. EpiSign can also identify disease-specific methylation patterns involving multiple loci across the genome. These unique methylation patterns, or epigenetics signatures, have been associated with a number of single-gene disorders.
Click on the link for the EpiSign FAQ and the EpiSign brochure for additional details and the full list of disorders:
EpiSign FAQ
EpiSign Brochure
,,,,,,,,,,,,,,,,,EpiSign Variant,
Dysmorphology and Genetics, Genetics and Dysmorphology
ADNP; ANKRD11; ARID1A; ARID1B; ATRX; BRWD3; CCNK; CDCA7; CDK13; CHD2; CHD4; CHD7; CHD8; CREBBP; DNMT1; DNMT3A; DNMT3B; EED; EHMT1; EP300; EZH2; FAM50A; FMR1; GNAS; HELLS; H1-4; KANSL1; KAT6A; KAT6B; KDM2B; KDM5C; KDM6A; KMT2A; KMT2D; KMT2B; KMT5B; MEG3; NIPBL; NSD1; PHF6; PLAGL1; POGZ; PQBP1; RAD21; SETD1B; SETD2; SETD5; SIN3A; SLC32A1; SMARCA2; SMARCA4; SMARCB1; SMC1A; SMC3; SMS; SOX11; SRCAP; TET3; UBE2A; XXY; YY1; ZBTB24; ZC4H2; ZNF711;
Angelman syndrome (methylation defects only),Beckwith-Wiedemann syndrome,Diabetes, Mellitus, transient neonatal 1,Fragile X syndrome (males only),Mulchandani-Bhoj-Conlin syndrome,Prader-Willi syndrome,Pseudohypoparathyroidism, Type 1A, 1B,Russell-Silver syndrome (RSS),Temple syndrome,7q11.23 duplication syndrome,AD Cerebellar Ataxia Deafness Narcolepsy (ADCADN),Alpha-thalassemia X-Linked Intellectual Disability (ATRX),BAFopathy - Coffin-Siris and Nicolaides-Baraitser,BAFopathy 2: Coffin-Siris syndrome 1 & 2,Beck-Fahrner syndrome,CHARGE Syndrome,Cornelia de Lange syndrome,Trisomy 21 also Down syndrome,Dystonia-28,Floating Harbor syndrome,Gabriele-de Vries,Helsmoortel-van der Aa syndrome,Hunter-McAlpine syndrome,Intellectual Developmental Disorder with seizures and language delay,KDM2B-related syndrome,Kleefstra syndrome,Koolen-De Vries syndrome,Luscan-Lumish syndrome,Menke-Hennekam syndrome,Phelan-McDermid syndrome,PRC2-complex disorders: Weaver & Cohen-Gibson syndromes,Rahman syndrome,Sotos syndrome,Velocardiofacial syndrome,Wiedemann-Steiner syndrome,Williams-Beuren syndrome,Wolf-Hirschhorn Syndrome,Arboleda-Tham syndrome,Coffin-Siris syndrome 9,Borjeson-Forssman-Lehmann syndrome,Genitopatellar syndrome,Immunodeficiency-centromeric instability-facial anomalies syndrome, types 1-4,Intellectual Developmental Disorder, X-linked syndromic, Armfield type,Renpenning syndrome,Tatton-Brown-Rahman Syndrome,Nicholaides-Baraitser,Blepharophiosis-impaired intellectual development syndrome,Developmental and epileptic encephalopathy 94,Intellectual Developmental Disorder, X-linked syndromic, Claes-Jensen type,Klinefelter syndrome,Sifrim-Hitz-Weiss syndrome,Smith Magenis Syndrome,Williams-Beuren region duplication syndrome,Congenital Heart Defect, Dysmorphic Facial Features and Intellectual Developmental Disorder,KBG syndrome,Intellectual Developmental Disorder, AD 51,Intellectual Developmental Disorder, X-linked 93,Intellectual Developmental Disorder, X-linked 97,Intellectual Developmental Disorder, X-linked syndromic, Snyder Robinson type,SLC32A1 related disorder,Wieacker-Wolff syndrome,Witteveen-Kolk syndrome,Intellectual Developmental Disorder, AD 23,Potocki-Lupski syndrome,Coffin-Siris 1-4,Kabuki syndrome 1 & 2,Rubinstein-Taybi syndrome 1 & 2,Intellectual Developmental Disorder, X-linked syndromic, Nascimento-type,
E
EpiSign Variant
EpiSign Variant
EpiSign Variant is a targeted review of methylation data intended to resolve variants of uncertain clinical signficance in genes with a known epigenetic signature
EpiSign Variant,EpiSign Variant is a targeted review of the methylation data intended to resolve variants of uncertain clinical significance in genes with a known epigenetic signature (see list below). Pathogenic variants in these genes have an established unique signature. When present, this signature can be used to provide supporting evidence during variant classification of a VUS.
EpiSign Variant can be requested to include all imprinting disorders if multiple conditions are in the patient's differential or if you suspect multilocus imprinting disturbance (MLID).
Click on the links below for the EpiSign FAQ and the EpiSign brochure for additional details and a full list of disorders:
EpiSign FAQ
EpiSign Brochure
,,,,,,,,,,,,,,,,,EpiSign Complete,
Dysmorphology and Genetics, Genetics and Dysmorphology
ADNP; ANKRD11; ARID1A; ARID1B; ATRX; BRWD3; CCNK; CDCA7; CDK13; CHD2; CHD4; CHD7; CHD8; CREBBP; DNMT1; DNMT3A; DNMT3B; EED; EHMT1; EP300; EZH2; FAM50A; FMR1; GNAS; HELLS; H1-4; KANSL1; KAT6A; KAT6B; KDM2B; KDM5C; KDM6A; KMT2A; KMT2D; KMT2B; KMT5B; MEG3; NIPBL; NSD1; PHF6; PLAGL1; POGZ; PQBP1; RAD21; SETD1B; SETD2; SETD5; SIN3A; SLC32A1; SMARCA2; SMARCA4; SMARCB1; SMC1A; SMC3; SMS; SOX11; SRCAP; TET3; UBE2A; XXY; YY1; ZBTB24; ZC4H2; ZNF711;
7q11.23 duplication syndrome,AD Cerebellar Ataxia Deafness Narcolepsy (ADCADN),Alpha-thalassemia X-Linked Intellectual Disability (ATRX),Angelman syndrome (methylation defects only),BAFopathy - Coffin-Siris and Nicolaides-Baraitser,BAFopathy 2: Coffin-Siris syndrome 1 & 2,Beck-Fahrner syndrome,Beckwith-Wiedemann syndrome,Blepharophiosis-impaired intellectual development syndrome,Borjeson-Forssman-Lehmann syndrome,CHARGE Syndrome,Coffin-Siris 1-4,Coffin-Siris syndrome 9,Cornelia de Lange syndrome,Intellectual Developmental Disorder, AD 23,Dystonia-28,Developmental and epileptic encephalopathy 94,Floating Harbor syndrome,Fragile X syndrome (males only),Gabriele-de Vries,Genitopatellar syndrome,Helsmoortel-van der Aa syndrome,Hunter-McAlpine syndrome,Immunodeficiency-centromeric instability-facial anomalies syndrome, types 1-4,Intellectual Developmental Disorder with seizures and language delay,Intellectual Developmental Disorder, X-linked syndromic, Armfield type,Kagami-Ogata syndrome,KDM2B-related syndrome,Kleefstra syndrome,Koolen-De Vries syndrome,Luscan-Lumish syndrome,Menke-Hennekam syndrome,Mulchandani-Bhoj-Conlin syndrome,Phelan-McDermid syndrome,Prader-Willi syndrome,PRC2-complex disorders: Weaver & Cohen-Gibson syndromes,Rahman syndrome,Renpenning syndrome,Russell-Silver syndrome (RSS),SBBYS syndrome,Sotos syndrome,Tatton-Brown-Rahman Syndrome,Temple syndrome,Trisomy 21 also Down syndrome,Velocardiofacial syndrome,Wiedemann-Steiner syndrome,Williams-Beuren syndrome,Wolf-Hirschhorn Syndrome,Arboleda-Tham syndrome,Congenital Heart Defect, Dysmorphic Facial Features and Intellectual Development Disorder,Intellectual Developmental Disorder, X-linked 93,Intellectual Developmental Disorder, X-linked 97,Intellectual Developmental Disorder, X-linked syndromic, Claes-Jensen type,Intellectual Developmental Disorder, X-linked syndromic, Nascimento-type,Intellectual Developmental Disorder, X-linked syndromic, Snyder Robinson type,Intellectual Developmental Disorder, AD 51,Kabuki syndrome 1 & 2,KBG syndrome,Klinefelter syndrome,Nicholaides-Baraitser,Potocki-Lupski syndrome,Pseudohypoparathyroidism, Type 1A, 1B,Rubinstein-Taybi syndrome 1 & 2,Sifrim-Hitz-Weiss syndrome,SLC32A1 related disorder,Smith Magenis Syndrome,Wieacker-Wolff syndrome,Williams-Beuren region duplication syndrome,Witteveen-Kolk syndrome,
P
Periodic Fever NGS Panel
Periodic Fever NGS Panel
This panel of 14 genes is intended for patients with periodic fever and is performed by Next Generation Sequencing (NGS).
Periodic Fever NGS Panel,,,,,,,,,,,,,,,,,,QUICK Analysis,Exon-Level Microarray: Single Gene Analysis,Exon-Level Microarray: 2-10 Genes,Exon-Level Microarray: More than 10 Genes,
Dysmorphology and Genetics, Hematology and Oncology, Musculoskeletal and Connective Tissue Disorders
ELANE; IL36RN; LPIN2; MEFV; MVK; NLRC4; NLRP12; NLRP3; NOD2; PSMB8; PSTPIP1; TNFAIP3; TNFRSF1A; TRNT1
CINCA syndrome,Familial cold autoinflammatory syndrome,Muckle-Wells syndrome,Familial Mediterranean fever,Periodic fever,Mevalonic aciduria 3,Pyogenic sterile arthritis pyoderma gangrenosum and acne (PAPA syndrome),Cyclic neutropenia,Pustular psoriasis,Majeed syndrome,Blau syndrome,Familial Behcet-like autoinflammatory syndrome,Retinitis pigmentosa and erythrocytic microcytosis (RPEM),Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD),
C
Central Hypoventilation Syndrome NGS Panel
Central Hypoventilation Syndrome NGS Panel
This panel of 3 genes is intended for patients with a diagnosis of central hypoventilation syndrome, and it is performed by Next Generation Sequencing (NGS).
Central Hypoventilation Syndrome NGS Panel,,,,,,,,,,,,,,,,,,QUICK Analysis,Exon-Level Microarray: Single Gene Analysis,Exon-Level Microarray: 2-10 Genes,
Neurology, Pulmonology
ASCL1; MYO1H; PHOX2B
Central hypoventilation,
D
Dyskeratosis Congenita NGS Panel
Dyskeratosis Congenita NGS Panel
This panel of 14 genes is intended for patients with a diagnosis or clinical suspicion of dyskeratosis congenita and is performed by Next Generation Sequencing (NGS).
Dyskeratosis Congenita NGS Panel,,,,,,,,,,,,,,,,,,Comprehensive Pulmonary NGS Panel,QUICK Analysis,Exon-Level Microarray: Single Gene Analysis,Exon-Level Microarray: 2-10 Genes,Exon-Level Microarray: More than 10 Genes,
Dysmorphology and Genetics, Hematology and Oncology, Ophthalmology, Pulmonology
ACD; CTC1; DKC1; GRHL2; LIG4; NHP2; NOP10; PARN; RTEL1; TERC; TERT; TINF2; USB1; WRAP53
Dyskeratosis congenita,LIG4 syndrome,Telomere-related Pulmonary fibrosis and/or bone marrow failure,Poikiloderma with neutropenia,Ectodermal Dysplasia/Short Stature syndrome,Dubowitz syndrome,Idiopathic pulmonary fibrosis,
E
Early Infantile Epileptic Encephalopathy NGS Panel
Early Infantile Epileptic Encephalopathy NGS Panel
This panel of 86 genes is intended for patients with a diagnosis or clinical suspicion of early infantile epileptic encephalopathy and is performed by Next Generation Sequencing (NGS).
Early Infantile Epileptic Encephalopathy NGS Panel,This panel of 86 genes is intended for patients with a diagnosis or clinical suspicion of early infantile epileptic encephalopathy and is performed by Next Generation Sequencing (NGS).,,,,,,,,,,,,,,,,,Epilepsy/Seizure NGS Panel,QUICK Analysis,Exon-Level Microarray: Single Gene Analysis,Exon-Level Microarray: 2-10 Genes,Exon-Level Microarray: More than 10 Genes,
Neurology
AARS1;ACO2;ADAM22;ALDH7A1;ALG13;AP3B2;ARHGEF9;ARV1;ARX;BRAT1;CACNA1A;CACNA2D2;CAD;CDKL5;CHD2;CLCN4;CNPY3;COQ4;CPLX1;CUX2;CYFIP2;DENND5A;DNM1;DOCK7;EEF1A2;FGF12;FRRS1L;GABBR2;GABRA1;GABRB1;GABRB2;GABRB3;GABRG2;GLS;GNAO1;GRIN2B;GRIN2D;GUF1;HCN1;HNRNPU;ITPA;KCNA2;KCNB1;KCNQ2;KCNQ3;KCNT1;KCNT2;MDH2;NECAP1;NTRK2;PACS2;PCDH19;PHACTR1;PIGA;PIGP;PLCB1;PNKP;PNPO;PURA;RHOBTB2;SCN1A;SCN1B;SCN2A;SCN3A;SCN8A;SIK1;SLC12A5;SLC13A5;SLC1A2;SLC25A12;SLC25A22;SLC2A1;SLC35A2;SPATA5;SPTAN1;ST3GAL3;STXBP1;SYNGAP1;SYNJ1;SZT2;TBC1D24;TRAK1;UBA5;WDR45;WWOX;YWHAG
Dravet syndrome,Early Infantile Epileptic Encephalopathy,GLUT1 Deficiency,Ohtahara Syndrome,Pyroxidine-dependent Epilepsy,Raynaud-Claes Syndrome,West syndrome,Infantile cerebellar, retinal degeneration,Lethal neonatal rigidity and multifocal seizure syndrome,Primary coenzyme Q10 deficiency-7,Multiple congenital anomalies-hypotonia-seizures syndrome-2,Microcephaly, seizures, and developmental delay,Congenital Disorder of Glycosylation type IIm,
D
Disorders of Sexual Development: FISH Panel, Routine (Buccal) (includes SRY/Xcen & X/Y dual assay probes)
Disorders of Sexual Development: FISH Panel, Routine (Buccal) (includes SRY/Xcen & X/Y dual assay probes)
Disorders of Sexual Development: FISH Panel, Routine (Buccal) (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.,,,,,,,,,,,,,,,,,Chromosome Analysis, High Resolution (Blood),Disorders of Sexual Development: FISH Panel, Routine (includes SRY/Xcen & X/Y dual assay probes),Whole-Genome SNP Microarray: Cytoscan HD Microarray,
Genetics and Dysmorphology
Ambiguous Genetalia,
D
Disorders of Sexual Development: FISH Panel, Rule Out Mosaic (Buccal) (includes SRY/Xcen & X/Y dual assay probes)
Disorders of Sexual Development: FISH Panel, Rule Out Mosaic (Buccal) (includes SRY/Xcen & X/Y dual assay probes)
Disorders of Sexual Development: FISH Panel, Rule Out Mosaic (Buccal) (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, Routine (includes SRY/Xcen & X/Y dual assay probes),Chromosome Analysis, High Resolution (Blood),Cytogenomic Microarray,
Genetics and Dysmorphology
Ambiguous Genetalia,
C
Cholestasis NGS Panel
Cholestasis NGS Panel
This panel of 73 genes is intended for patients with cholestasis and is performed by Next Generation Sequencing (NGS).
Cholestasis NGS Panel,This panel of 73 genes is intended for patients with cholestasis, and it is performed by Next Generation Sequencing (NGS).,,,,,,,,,,,,,,,,,Exon-Level Microarray: Single Gene Analysis,Exon-Level Microarray: 2-10 Genes,Exon-Level Microarray: More than 10 Genes,QUICK Analysis,
ABCB11;ABCB4;ABCC2;ABCG5;ABCG8;AKR1D1;ALDOB;AMACR;ATP8B1;BAAT;CC2D2A;CFTR;CLDN1;CYP27A1;CYP7A1;CYP7B1;DCDC2;DGUOK;DHCR7;EHHADH;EPCAM;FAH;GPBAR1;HNF1B;HSD17B4;HSD3B7;INVS;JAG1;LCT;LIPA;MKS1;MPV17;MYO5B;NEUROG3;NOTCH2;NPC1;NPC2;NPHP1;NPHP3;NPHP4;NR1H4;PEX1;PEX10;PEX11B;PEX12;PEX13;PEX14;PEX16;PEX19;PEX2;PEX26;PEX3;PEX5;PEX6;PEX7;PKHD1;POLG;SCP2;SCYL1;SERPINA1;SLC10A1;SLC10A2;SLC25A13;SLC27A5;SLC26A3;SMPD1;SPINT2;TJP2;TMEM216;TRMU;SKIC3;UGT1A1;VPS33B
Cholestasis,Alagille syndrome,Bile acid synthesis defect,Tyrosinemia,Niemann-Pick Disease,Peroxisome biogenesis disorder (Zellweger syndrome),Emphysema due to AAT deficiency,Sitosterolemia,Crigler-Najjar syndrome,Cystic Fibrosis,Progressive Familial Intrahepatic Cholestasis,Smith-Lemli-Opitz syndrome,Dubin-Johnson syndrome,Gallbladder disease,Hereditary fructose intolerance,Alpha-methylacyl-CoA racemase deficiency,Benign recurrent intrahepatic cholestasis,Intrahepatic cholestasis of pregnancy,Arthrogryposis,Familial hypercholanemia,Meckel syndrome,Congenital bilateral aplasia of the vas deferens,Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis,Cerebrotendinous xanthomatosis,Nephronophthisis,Neonatal sclerosing cholangitis,Noncirrhotic portal hypertension,Progressive external ophthalmoplegia with mitochondrial DNA deletions,Congenital tufting enteropathy,Renal cysts and diabetes syndrome,Perrault syndrome,D-bifunctional protein deficiency,Congenital lactase deficiency,Cholesteryl ester storage disease,Wolman disease,Microvillus inclusion disease,Congenital malabsorptive diarrhea,Hajdu-Cheney syndrome,Senior-Loken syndrome,Renal-hepatic-pancreatic dysplasia,Heimler syndrome,Rhizomelic chondrodysplasia punctata,Leukoencephalopathy with dystonia and motor neuropathy,Citrullinemia type II,Congenital secretory chloride diarrhea,Transient infantile liver failure,Transient familial neonatal hyperbilirubinemia,
P
Prenatal Exome Sequencing
Prenatal Exome Sequencing
Prenatal exome sequencing (PES) is a phenotype-driven analysis available for patients with abnormal findings on ultrasound.
Prenatal Exome Sequencing,Prenatal exome sequencing (PES) is available for patients with abnormal findings on ultrasound. This is a phenotype-driven analysis where only pathogenic and likely pathogenic variants related to the reported clinical features will be included in the prenatal report.
PES can be requested as a duo (maternal and fetal sample) or as a trio (maternal, paternal, and fetal sample). Maternal Cell Contamination (MCC) is required for this test.
Reanalysis may be requested at no additional charge after the baby is born. Any new medical information should be reported to the lab upon request for reanalysis. A new consent form will be required for reanalysis. Any changes suspected of causing the concerns identified during pregnancy will require a postnatal sample for confirmation.
,,,,,,,,,,,,,,,,,
Genetics and Dysmorphology
m
mtDNA Targeted Analysis with Heteroplasmy: Known Familial Mutation
mtDNA Targeted Analysis with Heteroplasmy: Known Familial Mutation
Targeted Next Generation Sequencing (NGS) analysis for a specific variant previously identified in a family member. Use of NGS allows for the reporting of heteroplasmy level.
Note: This test may not detect variants with a heteroplasmy of less than 10%.
mtDNA Targeted Analysis with Heteroplasmy: Known Familial Mutation,Targeted Next Generation Sequencing (NGS) analysis for a specific variant previously identified in a family member. Use of NGS allows for the reporting of heteroplasmy level.
Note: This test may not detect variants with a heteroplasmy of less than 10%.
,,,,,,,,,,,,,,,,,Common 29 mtDNA Variant Panel,Expanded 93 mtDNA Variant Panel,mtDNA Targeted Analysis: Known Familial Mutation,Mitochondrial Depletion NGS Panel,
Genetics and Dysmorphology, Metabolic Disorders, Neurology
Aminoglycoside-induced hearing loss,Ataxia Syndromes,Ataxia Myoclonus Mental Deterioration and Deafness,Cardiac and Multi-organ Dysfunction,Cardiomyopathy & Deafness,Chronic Progressive External Ophthalmoplegia,Diabetes and Deafness,Dystonia,Hypertrophic Cardiomyopathy,Leber Hereditary Optic Neuropathy,Leigh Syndrome,Mitochondrial Encephalomyopathy,Myoclonic Epilepsy & Ragged Red Fibers,Mitochondrial Encephalomyopathy,Mitochondrial Encephalomyopathy,Mitochondrial Myopathy plus Diabetes Mellitus and Deafness,Neurogenic Muscle Weakness Ataxia Retinitis Pigmentosa,Progressive Encephalopathy,Reversible COX Deficiency Myopathy,Retinitis Pigmentosa & Sensorineural Hearing Loss,
m
mtDNA Targeted Analysis: Known Familial Mutation
mtDNA Targeted Analysis: Known Familial Mutation
Targeted Sanger sequencing analysis for a specific variant previously identified in a family member.
Note: Levels of mutant heteroplasmy 20% or lower may not be detected by Sanger. Additionally, levels of mutant heteroplasmy above 80% will appear homoplasmic by Sanger sequencing.
mtDNA Targeted Analysis: Known Familial Mutation,Targeted Sanger sequencing analysis for a specific variant previously identified in a family member.
Note: Levels of mutant heteroplasmy 20% or lower may not be detected by Sanger. Additionally, levels of mutant heteroplasmy above 80% will appear homoplasmic by Sanger sequencing.
,,,,,,,,,,,,,,,,,Common 29 mtDNA Variant Panel,Expanded 93 mtDNA Variant Panel,mtDNA Targeted Analysis with Heteroplasmy: Known Familial Mutation,Mitochondrial Depletion NGS Panel,
Genetics and Dysmorphology, Metabolic Disorders, Neurology
Aminoglycoside-induced hearing loss,Ataxia Syndromes,Ataxia Myoclonus Mental Deterioration and Deafness,Cardiac and Multi-organ Dysfunction,Cardiomyopathy & Deafness,Chronic Progressive External Ophthalmoplegia,Diabetes and Deafness,Dystonia,Hypertrophic Cardiomyopathy,Leber Hereditary Optic Neuropathy,Leigh Syndrome,Mitochondrial Encephalomyopathy,Myoclonic Epilepsy & Ragged Red Fibers Overlap Syndrome,Mitochondrial Encephalomyopathy,Mitochondrial Encephalomyopathy,Mitochondrial Myopathy plus Diabetes Mellitus and Deafness,Neurogenic Muscle Weakness Ataxia Retinitis Pigmentosa,Progressive Encephalopathy,Reversible COX Deficiency Myopathy,Retinitis Pigmentosa & Sensorineural Hearing Loss,
P
Pompe Disease, Glycogen Storage Disease Type II: GAA Deletion/Duplication MLPA
Pompe Disease, Glycogen Storage Disease Type II: GAA Deletion/Duplication MLPA
GAA MLPA is a molecular test used to identify copy number variants in the gene associated with Glycogen Storage Disease Type II, Pompe disease.
Pompe Disease, Glycogen Storage Disease Type II: GAA Deletion/Duplication MLPA,GAA MLPA is a molecular test used to identify copy number variants in the gene associated with Glycogen Storage Disease Type II, Pompe disease.,,,,,,,,,,,,,,,,,Pompe Disease, Glycogen Storage Disease Type II: GAA Sequencing,Pompe Disease, Glycogen Storage Disease Type II: Alpha-glucosidase Enzyme Analysis,Pompe Disease, Glycogen Storage Disease Type II: Glucose Tetrasaccharide (Glc4) Urine Monitoring,
Cardiology, Metabolic Disorders, Neurology
GAA
Pompe disease Glycogen Storage Disease Type II,
S
Spinocerebellar Ataxia Expansion Panel
Spinocerebellar Ataxia Expansion Panel
This panel of 5 genes is intended for patients with a diagnosis or clinical suspicion of spinocerebellar ataxia, and it is performed by trinucleotide repeat expansion analysis.
Spinocerebellar Ataxia Expansion Panel,This panel of 5 genes is intended for patients with a diagnosis or clinical suspicion of spinocerebellar ataxia, and it is performed by trinucleotide repeat expansion analysis.,,,,,,,,,,,,,,,,,Spinocerebellar Ataxia Type 1 Expansion Analysis,Spinocerebellar Ataxia Type 2 Expansion Analysis,Spinocerebellar Ataxia Type 3 Expansion Analysis,Spinocerebellar Ataxia Type 6 Expansion Analysis,Spinocerebellar Ataxia Type 7 Expansion Analysis,
Neurology
ATXN1; ATXN2; ATXN3; ATXN7; CACNA1A
Spinocerebellar ataxia,
S
Spinocerebellar Ataxia Type 1 Expansion Analysis
Spinocerebellar Ataxia Type 1 Expansion Analysis
ATXN1 trinucleotide repeat analysis is a molecular test used to identify expanded CAG repeat size in the gene associated with spinocerebellar ataxia type 1.
Spinocerebellar Ataxia Type 1 Expansion Analysis,ATXN1 trinucleotide repeat analysis is a molecular test used to identify expanded CAG repeat size in the gene associated with spinocerebellar ataxia type 1.,,,,,,,,,,,,,,,,,Spinocerebellar Ataxia Expansion Panel,Neuromuscular Disorders NGS Panel,
Neurology
ATXN1
Spinocerebellar ataxia,
S
Spinocerebellar Ataxia Type 2 Expansion Analysis
Spinocerebellar Ataxia Type 2 Expansion Analysis
ATXN2 trinucleotide repeat analysis is a molecular test used to identify expanded CAG repeat size in the gene associated with spinocerebellar ataxia type 2.
Spinocerebellar Ataxia Type 2 Expansion Analysis,,,,,,,,,,,,,,,,,,Spinocerebellar Ataxia Expansion Panel,Neuromuscular Disorders NGS Panel,
Neurology
ATXN2
Spinocerebellar ataxia,
S
Spinocerebellar Ataxia Type 3 Expansion Analysis
Spinocerebellar Ataxia Type 3 Expansion Analysis
ATXN3 trinucleotide repeat analysis is a molecular test used to identify expanded CAG repeat size in the gene associated with spinocerebellar ataxia type 3.
Spinocerebellar Ataxia Type 3 Expansion Analysis,ATXN3 trinucleotide repeat analysis is a molecular test used to identify expanded CAG repeat size in the gene associated with spinocerebellar ataxia type 3.,,,,,,,,,,,,,,,,,Spinocerebellar Ataxia Expansion Panel,Neuromuscular Disorders NGS Panel,
Neurology
ATXN3
Spinocerebellar ataxia,
S
Spinocerebellar Ataxia Type 6 Expansion Analysis
Spinocerebellar Ataxia Type 6 Expansion Analysis
CACNA1A trinucleotide repeat analysis is a molecular test used to identify expanded CAG repeat size in the gene associated with spinocerebellar ataxia type 6.
Spinocerebellar Ataxia Type 6 Expansion Analysis,CACNA1A trinucleotide repeat analysis is a molecular test used to identify expanded CAG repeat size in the gene associated with spinocerebellar ataxia type 6.,,,,,,,,,,,,,,,,,Spinocerebellar Ataxia Expansion Panel,Neuromuscular Disorders NGS Panel,
Neurology
CACNA1A
Spinocerebellar ataxia,
S
Spinocerebellar Ataxia Type 7 Expansion Analysis
Spinocerebellar Ataxia Type 7 Expansion Analysis
ATXN7 trinucleotide repeat analysis is a molecular test used to identify expanded CAG repeat size in the gene associated with spinocerebellar ataxia type 7.
Spinocerebellar Ataxia Type 7 Expansion Analysis,,,,,,,,,,,,,,,,,,Spinocerebellar Ataxia Expansion Panel,Neuromuscular Disorders NGS Panel,
Neurology
ATXN7
Spinocerebellar ataxia,
P
Prader-Willi Syndrome Methylation-Specific MLPA
Prader-Willi Syndrome Methylation-Specific MLPA
Prader-Willi syndrome Methylation-Specific MLPA is a molecular test used to detect copy number variants and methylation abnormalities associated with Prader-Willi syndrome.
Prader-Willi Syndrome Methylation-Specific MLPA,Prader-Willi syndrome Methylation-Specific MLPA is a molecular test used to detect copy number variants and methylation abnormalities associated with Prader-Willi syndrome.,,,,,,,,,,,,,,,,,Prader-Willi Syndrome: (15q11q13) FISH Analysis,
Dysmorphology and Genetics, Neurology
Prader-Willi syndrome,
C
Chromosome Analysis, Routine (Amniotic Fluid)
Chromosome Analysis, Routine (Amniotic Fluid)
Chromosome Analysis, Routine (Amniotic Fluid),Chromosome analysis is an important component in the diagnosis and evaluation of genetic disorders. Chromosome abnormalities in which there is too much or too little genetic material can result in congenital malformations, intellectual disability, and aberrant sexual differentiation. Chromosome analysis can detect chromosome abnormalities such as trisomy, monosomy, triploidy, and marker chromosomes as well as balanced and unbalanced rearrangements. For routine chromosome analysis a minimum of 20 cells are counted to determine the modal number, and a minimum of 5 cells are analyzed for chromosomal abnormalities from G-banded preparations,,,,,,,,,,,,,,,,,
C
Chromosome Analysis, Routine; Short Study (Amniotic Fluid)
Chromosome Analysis, Routine; Short Study (Amniotic Fluid)
Chromosome Analysis, Routine; Short Study (Amniotic Fluid),Short study chromosome analysis includes routine karyotyping using G-banding, but fewer cells are analyzed than with routine karyotyping. For short study chromosome analysis, a minimum of 5 cells are counted and a minimum of 2 cells are analyzed for chromosomal abnormalities. Short study chromosome analysis can be used to complement other methods such as microarray to detect certain rearrangements that can only be identified by karyotype. A karyotype can detect chromosome abnormalities such as trisomy, monosomy, triploidy, and marker chromosomes as well as balanced and unbalanced rearrangements.,,,,,,,,,,,,,,,,,
C
Chromosome Analysis, Routine; Rule Out Mosaic (Amniotic Fluid)
Chromosome Analysis, Routine; Rule Out Mosaic (Amniotic Fluid)
Chromosome Analysis, Routine; Rule Out Mosaic (Amniotic Fluid),Chromosome mosaicism is defined as the presence of two or more cell lines with different chromosome constitutions in a single individual. Chromosome analysis to rule out mosaicism includes routine karyotyping using G-banded preparations, but additional cells are counted compared to routine chromosome analysis. A minimum of 50 cells are counted and 5 cells are analyzed.,,,,,,,,,,,,,,,,,
C
Chromosome Analysis, Routine (Chorionic Villus Sampling (CVS))
Chromosome Analysis, Routine (Chorionic Villus Sampling (CVS))
Chromosome Analysis, Routine (Chorionic Villus Sampling (CVS)),Chromosome analysis is an important component in the diagnosis and evaluation of genetic disorders. Chromosome abnormalities in which there is too much or too little genetic material can result in congenital malformations, intellectual disability, and aberrant sexual differentiation. Chromosome analysis can detect chromosome abnormalities such as trisomy, monosomy, triploidy, and marker chromosomes as well as balanced and unbalanced rearrangements. For routine chromosome analysis a minimum of 20 cells are counted to determine the modal number, and a minimum of 5 cells are analyzed for chromosomal abnormalities from G-banded preparations.,,,,,,,,,,,,,,,,,
C
Chromosome Analysis, Routine; Short Study (Chorionic Villus Sampling (CVS))
Chromosome Analysis, Routine; Short Study (Chorionic Villus Sampling (CVS))
Chromosome Analysis, Routine; Short Study (Chorionic Villus Sampling (CVS)),Short study chromosome analysis includes routine karyotyping using G-banding, but fewer cells are analyzed than with routine karyotyping. For short study chromosome analysis, a minimum of 5 cells are counted and a minimum of 2 cells are analyzed for chromosomal abnormalities. Short study chromosome analysis can be used to complement other methods such as microarray to detect certain rearrangements that can only be identified by karyotype. A karyotype can detect chromosome abnormalities such as trisomy, monosomy, triploidy, and marker chromosomes as well as balanced and unbalanced rearrangements.,,,,,,,,,,,,,,,,,
C
Chromosome Analysis, Routine (Solid Tissue/POC)
Chromosome Analysis, Routine (Solid Tissue/POC)
Chromosome Analysis, Routine (Solid Tissue/POC),Chromosome analysis is an important component in the diagnosis and evaluation of genetic disorders. Chromosome abnormalities in which there is too much or too little genetic material can result in congenital malformations, intellectual disability, and aberrant sexual differentiation. Chromosome analysis can detect chromosome abnormalities such as trisomy, monosomy, triploidy, and marker chromosomes as well as balanced and unbalanced rearrangements. For routine chromosome analysis a minimum of 20 cells are counted to determine the modal number, and a minimum of 5 cells are analyzed for chromosomal abnormalities from G-banded preparations.,,,,,,,,,,,,,,,,,
C
Chromosome Analysis, Routine; Short Study (Solid Tissue/POC)
Chromosome Analysis, Routine; Short Study (Solid Tissue/POC)
Chromosome Analysis, Routine; Short Study (Solid Tissue/POC),Short study chromosome analysis includes routine karyotyping using G-banding, but fewer cells are analyzed than with routine karyotyping. For short study chromosome analysis, a minimum of 5 cells are counted and a minimum of 2 cells are analyzed for chromosomal abnormalities. Short study chromosome analysis can be used to complement other methods such as microarray to detect certain rearrangements that can only be identified by karyotype. A karyotype can detect chromosome abnormalities such as trisomy, monosomy, triploidy, and marker chromosomes as well as balanced and unbalanced rearrangements.,,,,,,,,,,,,,,,,,
T
Trisomy FISH Screen (13,18,21,X,Y) (Chorionic Villus Sampling (CVS))
Trisomy FISH Screen (13,18,21,X,Y) (Chorionic Villus Sampling (CVS))
Trisomy FISH Screen (13,18,21,X,Y) (Chorionic Villus Sampling (CVS)),Trisomy Screen FISH analysis is a cytogenetic test used to identify aneuplodies involving chromosomes 13, 18, 21, X, and Y.,,,,,,,,,,,,,,,,,Prenatal Microarray,Chromosome Analysis, Routine (Chorionic Villus Sampling (CVS)),Chromosome Analysis, Routine; Short Study (Chorionic Villus Sampling (CVS)),
Trisomy 13,Trisomy 18,Trisomy 21 also Down syndrome,
T
Trisomy 21 FISH, Rule Out Mosaic (Buccal)
Trisomy 21 FISH, Rule Out Mosaic (Buccal)
Trisomy 21 FISH, Rule Out Mosaic (Buccal),Trisomy 21 FISH, Rule Out Mosaic is a cytogenetic test designed to detect varying degrees of mosaicism for chromosome 21 aneuploidy.,,,,,,,,,,,,,,,,,
Trisomy 21 also Down syndrome,
T
Trisomy 13 FISH, Rule Out Mosaic (Buccal)
Trisomy 13 FISH, Rule Out Mosaic (Buccal)
Trisomy 13 FISH, Rule Out Mosaic (Buccal),Trisomy 13 FISH, Rule Out Mosaic is a cytogenetic test designed to detect varying degrees of mosaicism for chromosome 13 aneuploidy.,,,,,,,,,,,,,,,,,
Trisomy 13,
T
Trisomy 18 FISH, Rule Out Mosaic (Buccal)
Trisomy 18 FISH, Rule Out Mosaic (Buccal)
Trisomy 18 FISH, Rule Out Mosaic (Buccal),Trisomy 18 FISH, Rule Out Mosaic is a cytogenetic test designed to detect varying degrees of mosaicism for chromosome 18 aneuploidy.,,,,,,,,,,,,,,,,,
Trisomy 18,
F
Fragile X Syndrome: FMR1 Methylation Analysis
Fragile X Syndrome: FMR1 Methylation Analysis
Additional characterizations of FMR1 expansions for methylation status following abnormal PCR detection of abnormal allele.
Fragile X Syndrome: FMR1 Methylation Analysis,Additional characterizations of FMR1 expansions for methylation status following abnormal PCR detection of abnormal allele.,,,,,,,,,,,,,,,,,Fragile X Syndrome: FMR1 Trinucleotide Repeat Analysis,
FMR1
Fragile X syndrome,
S
STRC-Related Disorders: STRC Sequencing
STRC-Related Disorders: STRC Sequencing
STRC sequencing is a molecular test used to identify variants in the gene associated with STRC-related disorders including type 16 autosomal recessive deafness.
STRC-Related Disorders: STRC Sequencing,STRC sequencing is a molecular test used to identify variants in the gene associated with STRC-related disorders including type 16 autosomal recessive deafness.,,,,,,,,,,,,,,,,,STRC-Related Disorders: STRC Deletion/Duplication MLPA,
Genetics and Dysmorphology
STRC
STRC-Related Disorders,
S
STRC-Related Disorders: STRC Deletion/Duplication MLPA
STRC-Related Disorders: STRC Deletion/Duplication MLPA
STRC Deletion/Duplication MLPA is a molecular test used to detect copy number variants in the gene associated with STRC-related disorders including type 16 autosomal recessive deafness.
STRC-Related Disorders: STRC Deletion/Duplication MLPA,STRC Deletion/Duplication MLPA is a molecular test used to detect copy number variants in the gene associated with STRC-related disorders including type 16 autosomal recessive deafness.,,,,,,,,,,,,,,,,,STRC-Related Disorders: STRC Sequencing,
Genetics and Dysmorphology
STRC
STRC-Related Disorders,
C
Central Hypoventilation Syndrome: PHOX2B Polyalanine Repeat
Central Hypoventilation Syndrome: PHOX2B Polyalanine Repeat
Central Hypoventilation Syndrome: PHOX2B Polyalanine Repeat,,,,,,,,,,,,,,,,,,Focused NGS - Single Gene,Central Hypoventilation Syndrome NGS Panel,Comprehensive Pulmonary NGS Panel,Exon-Level Microarray: Single Gene Analysis,Central Hypoventilation Syndrome: PHOX2B Sequencing,
Pulmonology
PHOX2B
Central hypoventilation,
C
Central Hypoventilation Syndrome: PHOX2B Sequencing
Central Hypoventilation Syndrome: PHOX2B Sequencing
Central Hypoventilation Syndrome: PHOX2B Sequencing,,,,,,,,,,,,,,,,,,Central Hypoventilation Syndrome: PHOX2B Polyalanine Repeat,Focused NGS - Single Gene,Central Hypoventilation Syndrome NGS Panel,Comprehensive Pulmonary NGS Panel,Exon-Level Microarray: Single Gene Analysis,
Pulmonology
PHOX2B
Central hypoventilation,
G
GNAS Methylation-Specific MLPA
GNAS Methylation-Specific MLPA
GNAS Methylation-Specific MLPA,GNAS Methylation-Specific MLPA is a molecular test used to detect copy number variants and methylation abnormalities within the GNAS complex locus on chromosome 20q13.32.,,,,,,,,,,,,,,,,,EpiSign Complete,EpiSign Variant,
GNAS
Pseudohypoparathyroidism (PHP),Pseudopseudohypoparathyroidism (PPHP),Osteoma Cutis (OC),Progressive Osseous Heteroplasia (POH),
K
Krabbe Disease: Psychosine Monitoring
Krabbe Disease: Psychosine Monitoring
Psychosine, also known as galactosylsphingosine, is a substrate of the galactocerebrosidase (GALC) enzyme that is deficient in Krabbe disease. Thus, psychosine is used as a biomarker for patients with Krabbe disease, both for diagnosis and for treatment monitoring. Psychosine can also be elevated in atypical Krabbe disease due to Saposin A deficiency due do variants in the PSAP gene.
Krabbe Disease: Psychosine Monitoring,,,,,,,,,,,,,,,,,,Krabbe Disease: Galactocerebrosidase Enzyme Analysis,Krabbe Disease: GALC Sequencing,
Metabolic Disorders, Neurology
Krabbe Disease also Galactocerebrosidase Deficiency,
M
Mitochondrial DNA Variant Panel
Mitochondrial DNA Variant Panel
This targeted panel include 96 mitochondrial DNA variants with known phenotypes. Below is a list of variants which are considered in the analysis. The variant “m.7445A>G” is located at the boundary of two genes, MT-CO1 and MT-TS1, and is commonly considered as two variants.
Mitochondrial DNA Variant Panel,This targeted panel include 96 mitochondrial DNA variants with known phenotypes. Below is a list of variants which are considered in the analysis. The variant “m.7445A>G” is located at the boundary of two genes, MT-CO1 and MT-TS1, and is commonly considered as two variants.,,,,,,,,,,,,,,,,,mtDNA Targeted Analysis with Heteroplasmy: Known Familial Mutation,mtDNA Targeted Analysis: Known Familial Mutation,Mitochondrial Depletion NGS Panel,
Genetics and Dysmorphology
Aminoglycoside-induced hearing loss,Ataxia Syndromes,Ataxia Myoclonus Mental Deterioration and Deafness,Cardiac and Multi-organ Dysfunction,Cardiomyopathy,Chronic Progressive External Ophthalmoplegia,Diabetes and Deafness,Dystonia,Hypertrophic Cardiomyopathy,Leber Hereditary Optic Neuropathy,Leigh Syndrome,Mitochondrial Encephalomyopathy,Myoclonic Epilepsy & Ragged Red Fibers,Neurogenic Muscle Weakness Ataxia Retinitis Pigmentosa,Progressive Encephalopathy,Retinitis Pigmentosa & Sensorineural Hearing Loss,Reversible COX Deficiency Myopathy,Mitochondrial Myopathy plus Diabetes Mellitus and Deafness,
C
Cytogenomic Microarray
Cytogenomic Microarray
Cytogenomic Microarray,The Cytogenomic Microarray provides genome-wide detection of copy number gains and losses. In addition to detection of copy number variations (CNVs), this SNP array also allows for the analysis of loss of heterozygosity (LOH) which can be useful in identifying uniparental disomy (UPD) as well as autozygosity (identity by descent).,,,,,,,,,,,,,,,,,Prenatal Microarray,
Dysmorphology and Genetics
chromosomal aneuploidy,
D
Disorders of Sexual Development: FISH Panel, Rule Out Mosaic (includes SRY/Xcen & X/Y dual assay probes)
Disorders of Sexual Development: FISH Panel, Rule Out Mosaic (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, Rule Out Mosaic (includes SRY/Xcen & X/Y dual assay probes),,,,,,,,,,,,,,,,,,Cytogenomic Microarray,Chromosome Analysis, High Resolution (Blood),
Genetics and Dysmorphology
Ambiguous Genetalia,
W
Whole Exome Sequencing-XL
Whole Exome Sequencing-XL
Whole exome sequencing–XL (WES-XL) is a comprehensive, phenotype-driven exome analysis using genomic data.
Whole Exome Sequencing-XL,Whole exome sequencing–XL (WES-XL) is a comprehensive, phenotype-driven exome analysis using the patient’s genomic data. Identified variants may be confirmed via Sanger sequencing or qPCR if needed as determined by the specific variant called. The standard WES-XL includes a trio analysis (patient plus parents). Samples from can be submitted in place of a parental specimen or in addition to parental samples. (Please note that an additional cost may incur for submitting more than 2 family members in addition to the proband.) Singleton and duos will also be accepted if appropriate family members samples are not available. A separate consent and family studies form must be completed for each familial sample submitted in addition to the patient. Please contact the lab prior to sending a sibling sample.
Secondary findings will only be reported for the patient initially, and only mutations or variants that are expected to harm the function of the gene will be reported. Only SNV analysis will be performed for secondary findings. The patient and/or patient’s guardian has the option to receive or not to receive the information about the patient’s changes that are considered secondary findings. If the lab does not have clear consent to report secondary findings, this will not be included in the final report. If a secondary finding is identified, parents may then elect to have the finding confirmed at no additional charge.,,,,,,,,,,,,,,,,,Prenatal Exome Sequencing-XL,Whole Exome Sequencing,Prenatal Exome Sequencing,Cytogenomic Microarray,
Dysmorphology and Genetics
P
Prenatal Exome Sequencing-XL
Prenatal Exome Sequencing-XL
Prenatal exome sequencing-XL (PES-XL) is available for patients with abnormal findings on ultrasound.
Prenatal Exome Sequencing-XL,Prenatal exome sequencing-XL (PES-XL) is available for patients with abnormal findings on ultrasound. This is a phenotype-driven analysis where only pathogenic and likely pathogenic variants related to the reported clinical features will be included in the prenatal report.
PES-XL can be requested as a duo (maternal and fetal sample) or as a trio (maternal, paternal, and fetal sample). Maternal Cell Contamination (MCC) is required for this test. performing a trio, a separate family studies form and consent is required.
Reanalysis may be requested at no additional charge after the baby is born. Any new medical information should be reported to the lab upon request for reanalysis. A new consent form will be required for reanalysis. Any changes suspected of causing the concerns identified during pregnancy will require a postnatal sample for confirmation.
,,,,,,,,,,,,,,,,,
Dysmorphology and Genetics