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BIOCHEMICAL Analysis:
Tay-Sachs Disease Carrier Testing
(Hexosaminidase A )
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 enzyme deficiency of 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.
- Carrier screening
- Gamete donors
TSD carrier testing is by measurement of Hexosaminidase A activity in the serum or white blood cells.
TSD carrier testing by DNA analysis is also available to individuals of Ashkenazi Jewish ancestry. This test is included in Ashkenazi Jewish Genetic Screening Panel 1. The carrier detection rate for Tay-Sachs disease in the Ashkenazi Jewish population is maximized by combining DNA analysis with biochemical analysis for Hexosaminidase A.
Biochemical analysis for Hexosaminidase A is the appropriate test for individuals of French Canadian and Cajun descent.
This test can be performed on women during pregnancy.
The carrier detection rate in the Ashkenazi Jewish population is 98% when combining DNA and biochemical analysis.
Blood: 10 cc whole blood collected in a purple top (EDTA) or yellow top (acid citrate dextrose) vacutainer tube. Do not centrifuge or freeze. This sample is time sensitive. In order to ensure accurate analysis, the sample must reach the UCSD Molecular Genetics Laboratory no later than the day following the draw date. Delays may result in patient re-draws. Please do not draw sample on a Friday afternoon or the day before a holiday.
14 days
83080, 83912
> Medical Genetics Test Requisition Form
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