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Genetic Testing for Tay Sachs Disease

Tay-Sachs disease is a genetic disorder. People with Tay-Sachs disease lack an enzyme that is required to prevent fatty build-ups in the body's cells. The disease progresses as fat builds up in the cells and causes loss of motor skills, retardation and death. There is no cure for Tay-Sachs disease.

  1. The Test

    • DNA Direct reports that the most effective test for detecting the Tay-Sachs gene is one that examines the DNA and checks for low levels of the enzyme that the body lacks as a result of the disease. This enzyme is known as hexosaminidase A (Hex A).

    Who Should Be Tested?

    • The Mayo Clinic recommends genetic testing for Tay-Sachs disease in people who have a family history of the disease, descended from Ashkenazi Jews, are members of Louisiana's Cajun community and people from some areas of Quebec.

    Prevalance

    • According to the Mazor Guide, abut 1 in 27 Jewish people in the United States is a carrier of Tay-Sachs disease. This rate is 1 in 250 in the general population.

    The Odds

    • Both parents must carry the Tay-Sachs disease gene in order to pass the disease to their offspring. The Mazor Guide and DNA Direct both state that when both parents do have the gene, there is a 1 in 4 chance their child will have Tay-Sachs, a 1 in 4 chance their child will not have the disease and will not be a carrier, and a 2 in 4 chance that the child will be a carrier of the gene but not have the disease themselves.

    Testing Options

    • If desired, genetic testing for Tay-Sachs can be done anonymously through a home kit. Tay-Sachs testing may also be done on a fetus in utero via amniocentesis during the 15th or 16th week of pregnancy.

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