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molecular Analysis:
Tay-Sachs Disease Carrier Testing
Tay-Sachs disease (TSD) is a severe, progressive neurodegenerative disorder that results in reduced life expectancy. TSD is caused by mutations in the HEXA gene and subsequent deficiency of the enzyme Hexosaminidase A . The carrier risk for TSD in the Ashkenazi Jewish population is 1 in 30. The American College of Obstetricians and Gynecologists recommends that individuals of Ashkenazi Jewish descent be offered carrier screening for TSD as part of routine obstetric care.
TSD carrier testing by DNA analysis is offered as part of a genetic screening panel which includes cystic fibrosis, Canavan disease, and familial dysautonomia. See Ashkenazi Jewish Genetic Screening - Panel 1 for testing information.
- Carrier screening
- Gamete donors
Direct mutation analysis: Our laboratory utilizes Amplification Refractory Mutation System (ARMS) technology to screen for 3 mutations relevant to the Ashkenazi Jewish population. The 3 mutations are 1277insTATC, 1421+1G>C, and G269S.
TSD carrier testing by biochemical analysis for Hexosaminidase A is also available to individuals of Ashkenazi Jewish ancestry. See Tay-Sachs Disease Carrier Testing-Biochemical Analysis for testing information. The carrier detection rate for Tay-Sachs disease is maximized by combining DNA analysis with biochemical analysis.
Biochemical analysis for Hexosaminidase A is the appropriate screening test for individuals of French Canadian and Cajun descent.
The carrier detection rate for DNA analysis of TSD in the Ashkenazi Jewish population is 94%. This detection rate is increased to 98% when combining DNA and biochemical analysis.
This carrier screening test is most appropriate for individuals of Ashkenazi Jewish descent. This test may not be appropriate for individuals from other ethnic backgrounds. The sensitivity of this carrier screen in non-Jewish populations has not been established. This test is not appropriate for fetal diagnosis or diagnosis of individuals with clinical phenotype.
Blood: 5 cc whole blood collected in a purple top (EDTA) or yellow top (acid citrate dextrose) vacutainer tube. Do not centrifuge or freeze. Sample may be refrigerated or stored at room temperature.
14 days
83891, 83894, 83900, 83901 (2X), 83909, 83914 (2X), 83912
> Medical Genetics Test Requisition Form
> Standard DNA Consent Form
> Medical Genetics Specimen Transport and Shipping Information
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