Use to diagnose or identify carriers of Tay Sachs disease. Individuals who are pregnant, use oral contraceptives, or have severe liver or autoimmune disease should not be tested using plasma or serum. Refer to Hexosaminidase A Percent and Total Hexosamindase in Leukocytes (2008125) for these individuals.
- Patient Preparation
- Yellow (ACD).
- Specimen Preparation
- Do not transfer whole blood to other containers. Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Room temperature. Also acceptable: Refrigerated.
- Unacceptable Conditions
- 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: 1 week; Frozen: Unacceptable
|Available Separately||Components||Reference Interval|
|No||Hexosaminidase A Percent in Plasma||55-76 percent|
|No||Hexosaminidase Total||Effective August 17, 2015|
600-1050 nmol hydrolyzed/hr/mL
|Yes (2008125)||Hexosaminidase A Percent and Total in Leukocytes||Effectvie November 18, 2013|
Greater than or equal to 63 percent
|Component Test Code*||Component Chart Name||LOINC|
|2008123||Hexosaminidase A Percent||12914-8|
- Hexosaminidase A and Total, plasma and leukocytes
- plasma and leukocytes hexosaminidase