Hexosaminidase A Percent and Total Hexosaminidase in Plasma with Reflex to Hexosaminidase A Percent and Total Hexosaminidase in Leukocytes
New York DOH Approval Status
This test will be sent out to a New York DOH approved laboratory.
- 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||800-1400 nmol hydrolyzed/hr/mL|
|Yes (2008125)||Hexosaminidase A Percent and Total in Leukocytes||Effectvie November 18, 2013|
Greater than or equal to 63 percent
Refer to report.
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. If plasma results are interpreted within the enzyme ranges of Affected, Carrier, or Ambiguous, then Hexosaminidase A and Total Hexosaminidase in Leukocytes will be added. Additional charges apply.
83080; if reflexed add 83080
|Component Test Code*||Component Chart Name|
|2008123||Hexosaminidase A Percent|