Diagnostic Tests for Tay Sachs

Diagnostic Test list for Tay Sachs: The list of diagnostic tests mentioned in various sources as used in the diagnosis of Tay Sachs includes:

• Eye exam
• Prenatal genetic testing
• Blastomere analysis before implantation (BABI) - in vitro fertilization test for various genetic conditions (under research); also called "preimplantation diagnosis".

Tests and diagnosis discussion for Tay Sachs: Gangliosides are made and biodegraded rapidly in early life as the brain develops. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures hexosaminidase A activity. Both parents must be carriers in order to have an affected child. When both parents are found to carry a genetic mutation in hexosaminidase A, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal monitoring of pregnancies is available if desired. ¹

Footnotes:
1. excerpt from NINDS Tay-Sachs Disease Information Page: NINDS

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