Hexosaminidase A and Total Hexosaminidase, Leukocytes (Dr. Whitley only)


Sunquest Code:NAGW  
Epic Code:LAB6507Epic Name:Hexosaminidase A and Total Hexosaminidase WBC
Order Instructions:Sample must arrive at Mayo the same day as collection.
Synonyms:Tay Sachs Disease
Methodology:Heat inactication, fluorometric, semiautomated
CPT Code:83080 x2
Turnaround Time:Specimens are sent to reference laboratory Mon-Thur only and not the day before a holiday. Results are reported within 4-8 days.
Special Instructions:A signed copy of a genetic consent form should be in the patient's chart. See Associated Links.
Compliance:

This test was developed and its performance characteristics determined by Laboratory Medicine and Pathology, Mayo Clinic. This test has not been cleared by the U.S. Food and Drug Administration.

Associated Links:

Genetic Testing Consent Form



Collection Instructions

Specimen:Whole Blood
Optimal Volume:6 mL
Minimum\Peds Volume:5 mL
Causes for Rejection:Gross hemolysis. Specimens greater than 96 hours old at the time of testing.


Processing and Shipping

Specimen Processing:Whole blood. Do not centrifuge. Refrigerate immediately.
Shipping Instructions:Ship same day at refrigerated temperature; do not freeze. Must arrive the same evening as collection occurred.
Test Performed at or Referral Lab Lab Sendouts  (Mayo)
Referral Lab number:NAGW


Interpretive

Reference Range:

Hexosaminidase Total

Less than or equal to 15 y

Greater than or equal to 20 nmol/min/mg

16 y and older

16.4-36.2 nmol/min/mg

 

Hexosaminidase Percent A

Less than or equal to 15 y

20-80% of total

16 y and older

63-75% of total

 

Interpretation is provided with report.

 

Use:Carrier detection and diagnosis of Tay-Sachs disease.


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