Hexosaminidase A Percent and Total Hexosaminidase in Plasma with Reflex to Hexosaminidase A Percent and Total Hexosaminidase in Leukocytes
2008129
Ordering Recommendation
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.
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 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
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.
CPT Code(s)
83080; if reflexed add 83080
Components
Component Test Code*Component Chart NameLOINC
2008122Hexosaminidase Total1954-7
2008123Hexosaminidase A Percent12914-8
2008130Hexosaminidase Interpretation 
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • Hexosaminidase A and Total, plasma and leukocytes
  • plasma and leukocytes hexosaminidase