Preferred test to diagnose or identify carriers of Tay Sachs disease, especially in individuals who are pregnant, use oral contraceptives, have severe liver or autoimmune disease, or had previously inconclusive Hexosaminidase A testing 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