Hexosaminidase A Percent and Total Hexosaminidase in Plasma with Reflex to Hexosaminidase A Percent and Total Hexosaminidase in Leukocytes
Can be used to evaluate symptomatic patients for Tay-Sachs disease or Sandhoff disease. Can identify carriers of Tay-Sachs disease. Identify carriers of Sandhoff disease. Plasma/serum assayed first; reflexes to leukocytes for inconclusive/abnormal results.
Do not transfer whole blood to other containers. Transport 3 mL whole blood. (Min: 1 mL)
Room temperature. Also acceptable: Refrigerated.
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 https://www.aruplab.com/patienthistory or by contacting ARUP Client Services.
Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable
|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
Refer to report.
Laboratory Developed Test (LDT)
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||LOINC|
|2008123||Hexosaminidase A Percent||12914-8|
- Hexosaminidase A and Total, plasma and leukocytes
- plasma and leukocytes hexosaminidase