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Diagnostic Tests for Tay Sachs Disease

Home Diagnostic Testing

These home medical tests may be relevant to Tay Sachs Disease:

Tests and diagnosis discussion for Tay Sachs Disease:

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. (Source: excerpt from NINDS Tay-Sachs Disease Information Page: NINDS)

 

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