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

Patient History for Tay-Sachs Disease Testing

ARUP Consult®

Disease Topics

Interface Map

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.

CPT Code(s)

83080; if reflexed add 83080

Are you an ARUP Client?
Click here for your pricing.

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