Tay-Sachs disease occurs at an increased frequency in individuals of Ashkenazi Jewish and French-Canadian descent. It is a lysosomal storage disorder that results in untreatable neurological degeneration and, in the common infantile form, death by 5 years of age.
Couples who are planning a pregnancy or who are already pregnant may decide to have testing to find out if they are carriers and at risk of having a baby with Tay-Sachs disease. It is standard of care to offer carrier screening to individuals of Ashkenazi Jewish descent for Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, mucolipidosis type IV, Niemann-Pick disease type A and Tay-Sachs disease. If both parents are found to be carriers, prenatal diagnosis by CVS or amniocentesis is available. Call a laboratory genetic counselor prior to obtaining any specimens. We perform Tay-Sachs enzyme analysis in conjunction with Tay-Sachs mutation analysis to provide a carrier detection rate of 97-98% in the Ashkenazi Jewish population.
CPT Codes:
83080(1)
Specimen Requirements:
Please Note: Samples for Tay-Sachs enzyme testing must arrive at the laboratory within two days of collection.
Blood:
- ACD-A (yellow-top) or EDTA (lavender-top) tube.
- Adult: 10 ml whole blood.
- 20 ml whole blood if both Tay-Sachs enzyme and mutation analyses are requested.
Turnaround Time:
10-14 days
Client Services:
Reproductive/Genetics
800-848-4436
Specimen Services/Pickup:
877-246-1226