Hexosaminidase A Percent and Total Hexosaminidase, Plasma or Serum
2008121
Ordering Recommendation
Use to diagnose or identify carriers of Tay Sachs disease. Also use to detect carriers of Sandhoff 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
HEXOS A P/S
Methodology
Quantitative Fluorometry
Performed
Tue
Reported
2-9 days  
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
  
Collect
Yellow (ACD). Also acceptable: Plain red.  
Specimen Preparation
Do not transfer whole blood to other containers. Transport 3 mL whole blood (Min: 1 mL) or transfer 1 mL serum to an ARUP Standard Transport Tube. (Min: 0.2 mL)  
Storage/Transport Temperature
Whole blood: Room temperature.  Serum: Frozen  
Unacceptable Conditions
  
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
Whole blood: Ambient: 3 days; Refrigerated: 3 days; Frozen: Unacceptable
Serum:
Ambient: 3 days; Refrigerated: 7 days; Frozen: 1 month  
Reference Interval
 
 
Available Separately Components Reference Interval
No Hexosaminidase A Percent 55-​76 percent
No Hexosaminidase Total 800-​1400 nmol hydrolyzed/hr/mL
   
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. Pregnant women or women using oral contraceptives cannot be tested using plasma or serum because of high false-positives rates. In serum samples, false positives can also be caused by several other conditions, including severe liver disease and autoimmune diseases. Testing in leukocytes should be used in these cases.
CPT Code(s)
83080
Components
Component Test Code*Component Chart Name
2008122Hexosaminidase Total
2008123Hexosaminidase A Percent
2008124Hexosaminidase Plasma/Serum Interp
* 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
  • Plasma and serum hexosaminidase Hexosaminidase A and Total, plasma or serum