TPMT Genetic Test: Thiopurine Toxicity, Azathioprine, Mercaptopurine, and Results
A TPMT genetic test identifies inherited variants that reduce thiopurine S-methyltransferase activity and increase sensitivity to azathioprine, mercaptopurine, and thioguanine. TPMT normally helps divert...
UGT1A1 Genetic Test: Irinotecan Toxicity, Gilbert Syndrome, and Results
A UGT1A1 genetic test has two main clinical uses. In oncology, it can identify patients who clear the active irinotecan metabolite SN-38 more slowly...
VKORC1 Genetic Test: Warfarin Sensitivity, Dose, and Results
A VKORC1 genetic test examines inherited variation in the gene that makes warfarin’s molecular target. The result most often reported, VKORC1 c.-1639G>A (rs9923231), helps...
Warfarin Pharmacogenetic Test: CYP2C9, VKORC1, CYP4F2, Dose, and Results
A warfarin pharmacogenetic test analyzes inherited variants that help explain why one person may need 1 mg of warfarin a day while another needs...
Alzheimer Disease Genetic Test: APOE, APP, PSEN1, PSEN2, and Results
Alzheimer disease genetic testing can answer very different questions depending on which genes are examined. Rare pathogenic variants in APP, PSEN1, or PSEN2 can...
Amyotrophic Lateral Sclerosis (ALS) Genetic Test: C9orf72, SOD1, TARDBP, and Results
ALS genetic testing looks for inherited or disease-associated changes that may explain why motor neurons are degenerating. The most important first-line targets include the...
Angelman Syndrome Genetic Test: UBE3A, Methylation, Deletion, and Results
Angelman syndrome testing does more than look for a change in the UBE3A gene. The condition results from loss of the active maternal UBE3A...
APOE Genotype Test: Alzheimer Disease Risk, Cholesterol, and Results
An APOE genotype test identifies which common APOE alleles—ε2, ε3, or ε4—you inherited from each biological parent. The result can inform several separate clinical...
Autism Genetic Testing: Chromosomal Microarray, Exome Sequencing, and Results
Genetic testing does not diagnose autism; autism is diagnosed from development, communication, behavior, and clinical observation. Genetic testing looks for an underlying chromosome or...
Becker Muscular Dystrophy Genetic Test: DMD Gene, Muscle Weakness, and Results
Becker muscular dystrophy testing looks for a pathogenic change in the DMD gene, which provides instructions for making dystrophin. Becker muscular dystrophy usually occurs...
C9orf72 Genetic Test: ALS, Frontotemporal Dementia, and Results
A C9orf72 genetic test looks for an abnormal expansion of the six-letter DNA sequence GGGGCC in the C9orf72 gene. This expansion is an important...
Charcot-Marie-Tooth Disease Genetic Test: PMP22, GJB1, MFN2, MPZ, and Results
Charcot-Marie-Tooth disease genetic testing searches for an inherited cause of a slowly progressive peripheral neuropathy. The most frequent findings involve PMP22, GJB1, MFN2, or...
Congenital Myasthenic Syndrome Genetic Test: Neuromuscular Junction Genes and Results
Congenital myasthenic syndrome genetic testing looks for inherited variants that disrupt communication between a motor nerve and muscle at the neuromuscular junction. These disorders...
CYP2D6 and CYP2C19 Psychiatric Medication Pharmacogenetic Test: Antidepressant Results
A CYP2D6 and CYP2C19 psychiatric medication pharmacogenetic test examines inherited differences in two liver-enzyme genes that help process many antidepressants. The result may explain...
Developmental Delay Genetic Test: DNA Variants, Diagnosis, and Results
A developmental delay genetic test looks for DNA changes that may explain why a child is learning, moving, speaking, or developing daily-living skills later...
Dravet Syndrome Genetic Test: SCN1A Gene Mutations and Results
A Dravet syndrome genetic test usually looks for disease-causing variants in SCN1A, the gene most often responsible for this severe developmental and epileptic encephalopathy....
Duchenne Muscular Dystrophy Genetic Test: DMD Gene, Deletions, and Results
A Duchenne muscular dystrophy genetic test looks for disease-causing changes in the DMD gene, which provides instructions for dystrophin, a protein that protects muscle...
Epilepsy Genetic Panel Test: Seizure Genes, Diagnosis, and Results
An epilepsy genetic panel test analyzes many genes associated with recurrent seizures and epilepsy syndromes at the same time. It is most likely to...
Facioscapulohumeral Muscular Dystrophy Genetic Test: D4Z4 Repeat, SMCHD1, and Results
A facioscapulohumeral muscular dystrophy genetic test evaluates a specialized DNA repeat region called D4Z4 near the end of chromosome 4 and, in selected cases,...
Fragile X Genetic Test: FMR1 CGG Repeats, Autism, and Results
A Fragile X genetic test measures the number of CGG repeats in the FMR1 gene and usually assesses whether an expanded repeat is methylated....