Genetics Test Lookup

• A
• B
• C
• D
• E
• F
• G
• H
• I
• J
• K
• L
• M
• N
• O
• P
• Q
• R
• S
• T
• U
• V
• W
• X
• Y
• Z
• 0
• 1
• 2
• 3
• 4
• 5
• 6
• 7
• 8
• 9

A back to top

• Acylcarnitine Profile
• Alpha Amino Adipic Semialdehyde
• Amino Acid Analysis
• Angelman Syndrome - DNA Methylation

B back to top

• Biotinidase Enzyme Assay

C back to top

• Chromosome Analysis, Peripheral Blood
• Chromosome Analysis, Skin Fibroblast
• Chromosome SNP Array
• Cytogenetics Familial Study

D back to top

• DNA Banking
• Duchenne/Becker Muscular Dystrophy - Mutation Analysis

F back to top

• Fabry Disease Enzyme Assay
• Factor V Leiden Mutation Analysis
• Familial Mediterranean Fever (MEFV) Known Mutation Analysis
• Familial Mediterranean Fever (MEFV) Sequencing 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

L back to top

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

M back to top

• Mannosidosis (Alpha) Enzyme Assay
• Mannosidosis (Beta) Enzyme Assay
• Maple Syrup Urine Disease (MSUD) Monitoring
• Maternal Cell Contamination - DNA Tests
• Maturity-Onset Diabetes of the Young (MODY) Sequencing Panel
• MCAD Known Mutation analysis
• Medium Chain Acyl-CoA Dehydrogenase (MCAD) Sequencing Analysis
• Metachromatic Leukodystrophy Enzyme Assay
• Methylene Tetrahydrofolate Reductase (MTHFR) Mutation Analysis
• Mucopolysaccharide (GAG) Quantitation
• Mucopolysaccharide Electrophoresis
• 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 Lipofuscinosis - CLN 1 (PPT) enzyme
• Neuronal Ceroid Lipofuscinosis - CLN 2 (TPP) enzyme

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

R back to top

• Rett Syndrome

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
• Tumor Necrosis Factor Receptor-Associated Periodic syndrome (TRAPS) Known Mutation Analysis
• Tumor Necrosis Factor Receptor-Associated Periodic syndrome (TRAPS) 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
• Very Long Chain Acyl-CoA Dehydrogenase Deficiency Known Mutation Analysis
• Very Long Chain Fatty Acid

W back to top

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

2 back to top

• 22q11.2 Deletion/Duplication Syndrome - FISH