Hexosaminidase A Percent and Total Hexosaminidase in Plasma with Reflex to Hexosaminidase A Percent and Total Hexosaminidase in Leukocytes
2008129
Ordering Recommendation
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 Hexosaminidase A percent and Total Hexosaminidase in Leukocytes (2008125). Can detect Sandhoff disease.
Mnemonic
HEXO RFLX
Methodology
Quantitative Fluorometry
Performed
Tue
Reported
2-9 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
Specimen Required
- Patient Preparation
- Collect
- 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.
- Remarks
- 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.
- Stability
- Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
| 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 |
Interpretive Data
Refer to report.
Note
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.
Hotline History
N/A
CPT Code(s)
83080; if reflexed, add 83080
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 2008122 | Hexosaminidase Total | 1954-7 |
| 2008123 | Hexosaminidase A Percent | 12914-8 |
| 2008130 | Hexosaminidase Interpretation |
Aliases
- Hexosaminidase A and Total, plasma and leukocytes
- plasma and leukocytes hexosaminidase