Tay-Sachs Test: Results


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Results


The test for Tay-Sachs disease measures the amount of an enzyme called hexosaminidase A (hex A) in the blood.

Normal

Tay-Sachs test
 

Enzyme measured

Value

Amount in blood

Total hexosaminidase (A+B):

9.9–15.9 units per liter (U/L)

Amount in blood

Hexosaminidase A:

7.5–9.8 units per liter (U/L)

  • Normal values vary depending on the laboratory and test method used. Check with your doctor for normal values.
  • A person who has about half the normal amount of hex A is a Tay-Sachs carrier.
  • A person who does not have any hex A has Tay-Sachs disease.
  • In rare cases, a person may not have either hex A or hex B enzyme. This causes a more severe condition called Sandhoff's disease.


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Last updated: March 31, 2008
Author: Debby Golonka, MPH
Reviewed By: Michael J. Sexton, MD - Pediatrics, Siobhan M. Dolan, MD, MPH - Reproductive Genetics
Editors: Susan Van Houten, RN, BSN, MBA, Tracy Landauer

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