Tay-Sachs Disease Genetic Testing: Care Instructions

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Genetic testing for Tay-Sachs disease allows people to find out if they have an increased chance of having a child with the disease. A genetic test looks for changes in genes in a DNA sample from a person's cells.

Tay-Sachs is a rare disease that is passed down through some families. A person with Tay-Sachs has changes in a gene that keep the body from making any or enough of an enzyme that breaks down fatty compounds. Without it, fatty compounds build up in the brain and nerve cells and cause damage. Tay-Sachs is fatal. And there is no cure.

The choice to have the test for Tay-Sachs disease is a personal one. You may want to be tested if you are concerned that you or your partner might be carriers of Tay-Sachs. If you and your partner are carriers, you may pass the disease on to your children. This may happen even though neither of you has the disease. This may be likely if either of you has a family member who has it. You may choose to be tested if you are pregnant and the test results will affect your decision whether to continue your pregnancy. Or the test results can help you make choices about the care of your newborn child.

Genetic test results may have ethical, religious, or legal impact. Before you get tested, you should know what you will do with the results. To help with this, see a genetic counselor before you make a choice about testing. The counselor can explain the test and its results clearly. It can help you make good decisions.

Why would you have genetic testing for Tay-Sachs disease?

  • You want to find out early if you are a carrier of the disease or if your unborn baby has the disease.
  • You have a family history of the disease.
  • Your partner has a family history of Tay-Sachs disease.
  • You are from a high-risk group. These include:
    • People descended from eastern and central European Jewish communities (Ashkenazi Jews).
    • People from certain French-Canadian groups of Quebec.
    • People from the Cajun community in and near Louisiana.

What is genetic counseling?

Genetic counseling is guidance from someone who is trained to help you understand the risk of having a child with a genetic disease such as Tay-Sachs. You may talk about:

  • How the disease is passed from parents to a child.
  • The disease itself.
  • Whether and how to test for the disease before getting pregnant or before a child is born.
  • The chances that you will have a child with the disease. This will be based on your test results.
  • What the results mean after the tests are done.

Where can you learn more?

Go to http://www.healthwise.net/patientEd

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The Health Encyclopedia contains general health information. Not all treatments or services described are covered benefits for Kaiser Permanente members or offered as services by Kaiser Permanente. For a list of covered benefits, please refer to your Evidence of Coverage or Summary Plan Description. For recommended treatments, please consult with your health care provider.