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.
- Patient Preparation
- Yellow (ACD).
- Specimen Preparation
- Do not transfer whole blood to other containers. Transport 3 mL whole blood. (Min: 1.0 mL)
- Storage/Transport Temperature
- Room temperature. Also acceptable: Refrigerated.
- Unacceptable Conditions
- 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 http://www.aruplab.com/patienthistory or by contacting ARUP Client Services.
- Ambient: 3 days; Refrigerated: 3 days; Frozen: Unacceptable
Greater than or equal to 63 percent
|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