Greenwood Genetic Center

Mucopolysaccharidosis (MPS) Enzyme Panel

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

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

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

Whole Exome Sequencing

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).

3-Methylcrotonylglycinuria: MCCC1/MCCC2 Sequencing

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

Aarskog Syndrome: FGD1 Sequencing

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

Achondroplasia: FGFR3 Targeted Analysis

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

Acylcarnitine Profile

Quantitation of acylcarnitines

Adrenoleukodystrophy, X-Linked: ABCD1 Sequencing

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

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: MAN2B1 Sequencing

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

Amino Acid Analysis (CSF, Plasma, Urine)

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

Aminoglycoside-Induced Hearing Loss: MT-RNR1 Targeted Analysis

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

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: UBE3A Sequencing

UBE3A sequencing is a molecular test used to identify variants in the gene 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.

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).

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.

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.

Aspartylglucosaminuria: AGA Sequencing

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

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.

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.

Beare-Stevenson with Cutis Gyrata: FGFR2 Targeted Analysis

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

Beckwith-Wiedemann Syndrome Methylation-Specific MLPA

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

Beckwith-Wiedemann Syndrome (BWS): CDKN1C Sequencing

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

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: MANBA Sequencing

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

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: BTD Sequencing

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

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).

C5-DC (Glutarylcarnitine) Analysis

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

Carnitine Analysis, Total and Free

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

Carnitine Palmitoyltransferase IA Deficiency: CPT1A Sequencing

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

Carnitine Palmitoyltransferase II Deficiency: CPT2 Sequencing

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

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

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).

CHD7-Related Disorders: CHD7 Sequencing

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

Chromosome 14 UPD Analysis

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

Chromosome 15 UPD Analysis

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

Chromosome 7 UPD Analysis

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

Chromosome Analysis (Bone Marrow, Stimulated/Unstimulated Blood)

Chromosome Analysis, High Resolution (Blood)

Chromosome Analysis, Routine (Blood)

Chromosome Analysis, Routine; Short Study (Blood)

Chromosome Analysis, Routine; Rule Out Mosaic (Blood)

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

Chronic Myelomonocytic Leukemia (CMML) Panel

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

Citrullinemia Type 1: ASS1 Sequencing

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

Coffin-Lowry Syndrome: RPS6KA3 Sequencing

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

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.

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 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.

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.

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 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.

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.

Connexin 26: GJB2 Sequencing

This test includes sequencing of the coding region.

Connexin 26: GJB2 Targeted Mutation Analysis

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

Copper Transport Disorders: ATP7A Sequencing

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

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.

Craniosynostosis NGS Panel

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

Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Urine)

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

Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Plasma)

Creatine Transporter Deficiency: Creatine Analysis (Urine)

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

Creatine Transporter Deficiency: SLC6A8 Sequencing

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

Crouzon with Acanthosis Nigricans: FGFR3 Targeted Analysis

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

Cystic Fibrosis: CFTR Sequencing

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

Cystic Fibrosis: CFTR Targeted Mutation Analysis

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

Exon-Level Microarray: 2-10 Genes

Exon-Level Microarray: Single Gene 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.

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.

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.

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.

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,

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: GLA Sequencing

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

Factor V Leiden Thrombophilia: F5 Targeted Analysis

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

FGFR2-Related Disorders: FGFR2 Sequencing

FGFR2-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.

Focused NGS - Single Gene

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

Focused NGS - Panel

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

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.

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: FUCA1 Sequencing

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

Galactosemia: Galactose-1-Phosphate Analysis

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

Galactosemia: GALT Sequencing

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

Galactosialidosis: CTSA Sequencing

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

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.

Chitotriosidase Enzyme Analysis

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

Gaucher Disease: GBA Sequencing

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

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.

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.

Hereditary Spastic Paraplegia NGS Panel

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

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).

Homocysteine Analysis

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

Hydrops Enzyme Panel

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

Non-Immune Hydrops NGS Panel

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

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).

Hypochondroplasia: FGFR3 Targeted Analysis

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

Kabuki Syndrome: KMT2D Sequencing

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

Kabuki Syndrome 2: KDM6A Sequencing

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

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: GALC Sequencing

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

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).

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).

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 (DBS)

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

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).

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).

Marfan Syndrome: FBN1 Sequencing

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

Maternal Cell Contamination (MCC)

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

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

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

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).

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.

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)

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

Mucolipidosis II/III Enzyme Panel (Plasma)

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

Mucolipidosis III Gamma: GNPTG Sequencing

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

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) 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.

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

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

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

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

Hurler Syndrome (MPS I): IDUA Sequencing

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

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.

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): 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 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): 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 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): 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 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): 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 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

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.

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): Urine Monitoring (Total GAGs, KS, CS)

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

Morquio Syndrome A (MPS IVA): GALNS Sequencing

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

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

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

Morquio Syndrome 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: GLB1 Sequencing

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

Maroteaux-Lamy Syndrome (MPS VI): ARSB Sequencing

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

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

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

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

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

Sly Syndrome (MPS VII): 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): 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).

Multiple Sulfatase Deficiency Enzyme Panel

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

Myotonic Dystrophy: DMPK Trinucleotide Repeat Analysis

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

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.

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.

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).

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,

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 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): 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 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): 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.

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: SMPD1 Sequencing

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

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).

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).

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.

Oligosaccharidoses Enzyme Panel

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

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).

Organic Acid Analysis

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

Ornithine Transcarbamylase Deficiency: OTC Sequencing

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

Orotic Acid Analysis

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

Overgrowth/Macrocephaly NGS Panel

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

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 Sequencing

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

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).

Phenylketonuria: PAH Sequencing

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

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

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

Pompe Disease, Glycogen Storage Disease Type II: 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: 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.

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.

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).

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.

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 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.

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.

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 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 Targeted Analysis

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

PTPN11-Related Disorders: PTPN11 Sequencing

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

Pulmonary Arterial Hypertension NGS Panel

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

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).

Retinitis Pigmentosa NGS Panel

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

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

MECP2 sequencing is a molecular test used to identify 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

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

Rhabdomyolysis & Metabolic Myopathies NGS Panel

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

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).

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 Sequencing

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

Sandhoff Disease: HEXB Sequencing

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

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.

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.

Sialic Acid Analysis, Total and Free

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

Sialidosis: Alpha-Neuraminidase (Sialidase) Enzyme Analysis

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

Sialidosis: NEU1 Sequencing

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

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).

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 Sequencing

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

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.

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.

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.

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.

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 Infertility Microarray

This test analyzes certain regions of the Y chromosome for deletions associated with male infertility.

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/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.

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 II: FGFR3 Targeted Analysis

FGFR3 targeted analysis is a molecular test used to identify variants in the gene associated with Thanatophoric dyplasia type II .

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.

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.

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.

Tryptophan Analysis

This test is a quantitative measurement of tryptophan.

Vascular Malformation NGS Panel

This panel of 21 genes is intended for patients with a diagnosis or clinical suspicion of Vascular Disorders.

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.

X-Inactivation Studies

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 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).

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.

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.

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.

Chromosome Analysis, High Resolution; Rule Out Mosaic (Blood)

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).

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).

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.

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).

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).

Exon-Level Microarray: More than 10 Genes

EpiSign Complete

EpiSign Complete is the first clinical assay validated to detect unique epigenetic signatures and methylation abnormalities for over 70 recognized genetic conditions.

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,

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

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,

Periodic Fever NGS Panel

This panel of 14 genes is intended for patients with periodic fever and is performed by Next Generation Sequencing (NGS).

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).

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).

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).

Disorders of Sexual Development: FISH Panel, Routine (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)

Cholestasis NGS Panel

This panel of 73 genes is intended for patients with cholestasis and is performed by Next Generation Sequencing (NGS).

Prenatal Exome Sequencing

Prenatal exome sequencing (PES) is a phenotype-driven analysis available for patients with abnormal findings on ultrasound.

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: 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.

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.

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

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 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 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 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 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.

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.

Chromosome Analysis, Routine (Amniotic Fluid)

Chromosome Analysis, Routine; Short Study (Amniotic Fluid)

Chromosome Analysis, Routine; Rule Out Mosaic (Amniotic Fluid)

Chromosome Analysis, Routine (Chorionic Villus Sampling (CVS))

Chromosome Analysis, Routine; Short Study (Chorionic Villus Sampling (CVS))

Chromosome Analysis, Routine (Solid Tissue/POC)

Chromosome Analysis, Routine; Short Study (Solid Tissue/POC)

Trisomy FISH Screen (13,18,21,X,Y) (Chorionic Villus Sampling (CVS))

Trisomy 21 FISH, Rule Out Mosaic (Buccal)

Trisomy 13 FISH, Rule Out Mosaic (Buccal)

Trisomy 18 FISH, Rule Out Mosaic (Buccal)

Fragile X Syndrome: FMR1 Methylation Analysis

Additional characterizations of FMR1 expansions for methylation status following abnormal PCR detection of abnormal allele.

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

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.

Central Hypoventilation Syndrome: PHOX2B Polyalanine Repeat

Central Hypoventilation Syndrome: PHOX2B Sequencing

GNAS Methylation-Specific MLPA

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.

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.

Cytogenomic Microarray

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