Tay-Sachs Disease Testing

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.