Tay-Sachs Test: What To Think About

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What To Think About

• A positive Tay-Sachs test may need to be confirmed with other genetic tests. For more information, see the medical test Genetic Test.
• If you are pregnant or use birth control pills, your doctor would test the hexosaminidase A (hex A) amount in your white blood cells.
• People who have a high chance of being a carrier of Tay-Sachs may want to have a blood test to see whether they are carriers before they have children. People of Ashkenazi Jewish or French-Canadian descent who have a family history of Tay-Sachs disease or who live in a community or population with a high amount of Tay-Sachs disease may want to be tested. Genetic counseling is available for people who have the disease or are carriers.
• If the parents of an unborn baby (fetus) are Tay-Sachs carriers, the following tests can be done to see if the baby has the disease.
  • An amniocentesis checks a sample of amniotic fluid and is usually done between the 14th and 18th weeks of pregnancy. For more information, see the medical test Amniocentesis.
  • Chorionic villus sampling checks special cells in the placenta and can be done between the 9th and 12th weeks of pregnancy. For more information, see the medical test Chorionic Villus Sampling.

Last updated:	March 31, 2008
Author:	Debby Golonka, MPH
Reviewed By:	Michael J. Sexton, MD - Pediatrics, Siobhan M. Dolan, MD, MPH - Reproductive Genetics
Editors:	Susan Van Houten, RN, BSN, MBA, Tracy Landauer