Test Overview

This test for Tay-Sachs disease measures the amount of an enzyme called hexosaminidase A (Hex A) in the blood. Hex A breaks down compounds called gangliosides in the brain and nerves. Tay-Sachs is an inherited disease in which the body can't break down gangliosides as it should, so they collect in the nerve cells of the brain and spinal cord and cause damage.

Tay-Sachs can occur when parents pass on a changed gene to their child.

• If the changed gene is from both parents, the baby will get the disease.
• If the changed gene is from only one parent, the baby will be a carrier. This means that the child will have one gene that produces Hex A and one that doesn't. The child's body makes enough Hex A so they won't get the disease. But the child can pass the changed gene on to their children.

The Tay-Sachs enzyme test is usually done on a blood sample.

Why It Is Done

A test to measure hexosaminidase A is done to:

• See whether a baby may have Tay-Sachs disease.
• Find Tay-Sachs carriers. People of Ashkenazi Jewish, French-Canadian, or Cajun descent or who have a family history of Tay-Sachs disease may want to be tested.
• See whether a fetus has Tay-Sachs disease. This is done early in pregnancy using amniocentesis or chorionic villus sampling.

How To Prepare

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.

How It Is Done

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

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How It Feels

When a blood sample is taken, you may feel nothing at all from the needle. Or you might feel a quick sting or pinch.

Risks

There is very little chance of having a problem from this test. When a blood sample is taken, a small bruise may form at the site.

Results

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.