Preferred test to identify carriers of Tay-Sachs disease. Preferred test to identify carriers of Sandhoff disease. Can use to evaluate symptomatic patients for Tay-Sachs disease or Sandhoff disease. Use in pregnant individuals, individuals who use oral contraceptives or hormone replacement therapy, individuals with liver or autoimmune disease, or individuals with a previous inconclusive HEX A enzyme test in plasma/serum.
Do not transfer whole blood to other containers. Transport 3 mL whole blood. (Min: 1.0 mL)
Room temperature. Also acceptable: Refrigerated.
Whole blood received greater than 3 days from collection. Grossly hemolyzed specimens.
Clinical information is needed for appropriate interpretation. Additional required information includes age, gender, diet (e.g.TPN therapy), drug therapy, and family history. Biochemical Genetics Patient History Form is available on the ARUP Web site at https://www.aruplab.com/patienthistory or by contacting ARUP Client Services.
Ambient: 3 days; Refrigerated: 3 days; Frozen: Unacceptable
Effective November 18, 2013
Greater than or equal to 63 percent
Refer to report.
Laboratory Developed Test (LDT)
This test is used for the diagnosis of Tay-Sachs disease and can also be used to identify carriers for this disorder. Carrier screening is offered to individuals of Ashkenazi Jewish descent because of the high incidence of the disease in this population.
|Component Test Code*||Component Chart Name||LOINC|
|2008126||Hexosaminidase A Percent in Leukocytes||23825-3|
|2008127||Hexosaminidase Total, Leukocytes||50759-0|
|2008128||Hexosaminidase in Leukocytes Interp||21328-0|
- HEXA enzyme testing
- Hexosaminidase A and Total, leukocytes