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Tay-Sachs disease (TSD) is a fatal condition caused by a deficiency of the enzyme hexosaminidase A (Hex-A).
Tests to determine the presence and quantity of hexosaminidase A can be performed on the blood, specially treated skin cells, or white blood cells.
A carrier has about half the normal level of hexosaminidase A present, while an individual with the disease has no hexosaminidase A at all.
When the levels of hexosaminidase A are half the normal level, a person is a carrier of the defective gene.