NTSAD provides family services, research, and education for
Tay-Sachs, GM-1, Sandhoff, Canavan and allied diseases.
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Yes. Tay-Sachs disease enzyme analysis is very sensitive but can be affected by pregnancy status, medications, and transport temperature. DNA mutation analysis may help clarify whether an individual is truly a carrier for Tay-Sachs disease. Typically DNA and enzyme testing are performed at the same time to allow for optimal interpretation of results.
A genetics professional can help you to understand what this result means for you and your family. Visit Genetic Counseling to get in contact with a provider near you.