Tay-Sachs Disease Testing
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About Our Tay-Sachs Disease Testing
Note: Fasting is not required for this test.
Tay-Sachs is an inherited disease in which the body cannot properly break down fatty substances. This leaves the fatty substances to collect in the brain's nerve cells, causing damage.
Tay-Sachs disease is tested for by measuring levels of an enzyme called hexosaminidase A (hex A) in the blood. This blood test measures levels of hex A, determining if an individual has Tay-Sachs disease or is a carrier of the disease.
This test can also be used to determine if an individual has a condition in which they cannot make either hex A or hex B, called Sandhoff's disease.