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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.
ARUP Consult®
Disease Topics
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
NoHexosaminidase A Percent in Plasma55-76 percent
NoHexosaminidase TotalEffective August 17, 2015
600-1050 nmol hydrolyzed/hr/mL
Yes (2008125)Hexosaminidase A Percent and Total  in LeukocytesEffectvie November 18, 2013
Greater than or equal to 63 percent

Interpretive Data
Refer to report.

Compliance Statement B: For laboratory developed tests not using a RUO kit, and for FDA approved, cleared or 510(k) exempt assays with alterations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

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
View Hotline History
CPT Code(s)
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