Find a Genetics Test

Listed Alphabetically

A
Acylcarnitine Profile Amino Acid Analysis Angelman Syndrome - DNA Methylation Array Comparative Genomic Hybridization

B
Biotinidase Enzyme Assay

C
Canavan Disease Mutation Analysis Carnitine Palmitoyltransferase Deficiency Type 1A Mutation Analysis Chromosome Analysis, Peripheral Blood Chromosome Analysis, Skin Fibroblast Congenital Disorders of Glycosylation - Transferrin Assay Creatine/Guanidinoacetate Analysis Cystic Fibrosis Mutation Analysis

D
Duchenne/Becker Muscular Dystrophy - Mutation Analysis

F
Fabry Disease Enzyme Assay Factor V Leiden Mutation Analysis Fragile X Friedreich Ataxia Mutation Analysis Fucosidosis Enzyme Assay

G
Galactosemia - Galactose-1-Phosphate Galactosemia Enyzme Assay Galactosemia Mutation Analysis (7 mutations) Gaucher Disease Enzyme Assay Gaucher Disease Known Mutation Analysis Gaucher Disease Mutation Analysis (11 mutations) Gaucher Disease Sequencing Analysis GM1 Gangliosidosis Enzyme Assay GM2 Gangliosidosis (Tay Sachs) Enzyme Assay

I
I-Cell Disease Enzyme Assay

K
Krabbe Disease Enzyme Assay

L
LCHAD/Trifunctional Protein Deficiency HADHA Full Sequencing LCHAD/Trifunctional Protein Deficiency HADHA Known Mutation Analysis

M

Mannosidosis (Alpha) Enzyme Assay Mannosidosis (Beta) Enzyme Assay Maple Syrup Urine Disease (MSUD) Monitoring Maternal Cell Contamination - Biochemical Tests Maternal Cell Contamination - DNA Tests Medium Chain Acyl-CoA Dehydrogenase (MCAD) Mutation Analysis (2 mutations) Medium Chain Acyl-CoA Dehydrogenase (MCAD) Sequencing Analysis Metabolic Screen, Urine Metachromatic Leukodystrophy Enzyme Assay Methylene Tetrahydrofolate Reductase (MTHFR) Mutation Analysis Mucopolysaccharide Electrophoresis Mucopolysaccharide Quantitation Mucopolysaccharidosis Type I (Hurler, Hurler/Scheie, Scheie) Enzyme Assay Mucopolysaccharidosis Type VI (Maroteaux-Lamy) Enzyme Assay Mucopolysaccharidosis Type VII (Sly) Enzyme Assay

N
Neuronal Ceroid Lipofucinosis - CLN 1 (PPT) enzyme Neuronal Ceroid Lipofucinosis - CLN 2 (TPP) enzyme Nonketotic Hyperglycinemia Enzyme Assay

O
Oligosaccharide Analysis Organic Acid Analysis Orotic Acid Quantitation

P
Pompe Disease Enzyme Assay Prader-Willi Syndrome - DNA Methylation Primary Hyperoxaluria Type I - Known Mutation Analysis Primary Hyperoxaluria Type I - Sequencing Analysis Prothrombin (Factor II) Mutation Analysis Pyridoxine-Dependent Seizures Known Mutation Analysis Pyridoxine-Dependent Seizures Sequencing Analysis

S
Sandhoff Disease Enzyme Assay Spinal Muscular Atrophy Mutation Analysis

T
Thrombosis Risk DNA Panel Tyrosinemia Type I - Orfadin Quantitation Tyrosinemia Type I - Succinylacetone Quantitation Tyrosinemia Type I - Succinylacetone Screening Tyrosinemia Type I Known Mutation Analysis Tyrosinemia Type I Mutation Analysis

V
Very Long Chain Acyl-CoA Dehydrogenase Deficiency DNA Sequencing

W
Wilson Disease Sequencing Analysis Wilson Disease, Known Mutation Analysis

2
22q11.2 Deletion/Duplication Syndrome - FISH