Tay-sachs test

• You want to find out early if you are a carrier of the disease or if the baby you are carrying is at risk of having the disease.
• You or your partner has a family history of the disease.
• You or your partner is 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.

A health professional uses a needle to take a blood sample, usually from the arm.

You do not need to do anything before having this test. If you are having this test to see whether you are a Tay-Sachs carrier, you should tell your doctor if you have had a bone marrow transplant, are on birth control pills, or may be pregnant.

Talk to your doctor about any concerns you have about the need for the test, its risks, how it will be done, or what the results may mean.

Each lab has a different range for what's normal. Your lab report should show the range that your lab uses for each test. The normal range is just a guide. Your doctor will also look at your results based on your age, health, and other factors. A value that isn't in the normal range may still be normal for you.

• A person who has only one changed Tay-Sachs gene is a carrier. Tay-Sachs carriers don't have the disease but may pass on the changed gene to their children.
• A person who does not have any (or enough) Hex A may have Tay-Sachs disease.