Ordering Recommendation

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.

Mnemonic
HEXO RFLX
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).

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.

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
N/A
CPT Codes

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
* 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
Hexosaminidase A Percent and Total Hexosaminidase in Plasma with Reflex to Hexosaminidase A Percent and Total Hexosaminidase in Leukocytes