Who else in my family should I test for Tay-Sachs disease?

In a family with Tay-Sachs disease, tests can be done to see whether other family members are carriers for the disorder. (Carriers do not have symptoms and have one working and one non-working copy of the HEXA gene.) However, the specific gene changes in that family needs to be known. If known, all siblings and other at-risk relatives can be tested. Molecular genetic testing, which are tests that look for changes to genes, can be performed. A newborn child in a family with a history of Tay-Sachs disease should be tested through molecular genetic testing. An enzyme assay, which is a test that can measure the activity of the hexosaminidase A enzyme in certain cells, can also be used to test at-risk family members). A genetic counselor or a physician with experience in Tay-Sachs disease can provide advice about how a confirmed diagnosis can affect other family members. Medical geneticists can be found through the American College of Medical Geneticists and a genetic counselor can be found through the National Society of Genetic Counselors.

Other Questions About Tay-Sachs disease

• Who else in my family should I test for Tay-Sachs disease?
• Where do I find other people with Tay-Sachs disease?
• Where can I get financial help for Tay-Sachs disease?
• Where can caregivers of people with Tay-Sachs disease get support?
• What tests support a diagnosis of Tay-Sachs disease?