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