Genetics Test Lookup

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A back to top

• Acylcarnitine Profile
• Amino Acid Analysis
• Angelman Syndrome - DNA Methylation
• Array Comparative Genomic Hybridization
• Array Comparative Genomic Hybridization Follow-up - Parental Testing

B back to top

• Biotinidase Enzyme Assay

C back to top

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

D back to top

• Duchenne/Becker Muscular Dystrophy - Mutation Analysis

F back to top

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

G back to top

• Galactosemia - Galactose-1-Phosphate
• Galactosemia Enyzme Assay
• Galactosemia Known Mutation Analysis
• Galactosemia Mutation Analysis (8 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 back to top

• I-Cell Disease Enzyme Assay

K back to top

• Krabbe Disease Enzyme Assay

L back to top

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

M back to top

• Mannosidosis (Alpha) Enzyme Assay
• Mannosidosis (Beta) Enzyme Assay
• Maple Syrup Urine Disease (MSUD) Monitoring
• Maternal Cell Contamination - Biochemical Tests
• Maternal Cell Contamination - DNA Tests
• Maturity-Onset Diabetes of the Young (MODY) Sequencing Panel
• 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 back to top

• Neonatal Diabetes DNA Sequencing Panel
• Neuronal Ceroid Lipofucinosis - CLN 1 (PPT) enzyme
• Neuronal Ceroid Lipofucinosis - CLN 2 (TPP) enzyme
• Nonketotic Hyperglycinemia Enzyme Assay - DISCONTINUED

O back to top

• Oligosaccharide Analysis
• Organic Acid Analysis
• Orotic Acid Quantitation

P back to top

• POLG1-Related Disorders
• Pompe Disease Enzyme Assay
• Pompe Disease Known Mutation Analysis
• Pompe Disease Sequence Analysis
• Prader-Willi Syndrome - DNA Methylation
• Primary Hyperoxaluria Type I - Known Mutation Analysis
• Primary Hyperoxaluria Type I - Sequencing Analysis
• Progressive External Opthalmoplegia (POLG-2) Sequencing
• Prothrombin (Factor II) Mutation Analysis
• Pyridoxine-Dependent Seizures Known Mutation Analysis
• Pyridoxine-Dependent Seizures Sequencing Analysis

S back to top

• Sandhoff Disease Enzyme Assay
• Spinal Muscular Atrophy Carrier Testing
• Spinal Muscular Atrophy Diagnostic Testing

T back to top

• Thrombosis Risk DNA Panel
• Trifunctional Protein Deficiency (HADHB) Known Mutation Analysis
• Trifunctional Protein Deficiency (HADHB) Sequencing Analysis
• 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 back to top

• Very Long Chain Acyl-CoA Dehydrogenase Deficiency DNA Sequencing

W back to top

• Wilson Disease Sequencing Analysis
• Wilson Disease, Known Mutation Analysis

2 back to top

• 22q11.2 Deletion/Duplication Syndrome - FISH