Diagnose suspected Tay-Sachs disease or identify carriers of Tay-Sachs disease in males and nonpregnant females. For individuals who are pregnant, use oral contraceptives, have severe liver or autoimmune disease, or had previously inconclusive HEX A enzyme serum/plasma level, the preferred test is 2008125 Hexosaminidase A percent and Total Hexosaminidase in Leukocytes. Can detect Sandhoff disease.
- 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