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

Abbrev Code:MMMISC   
Order Code:LAB4909Order 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 inactivation, fluorometric, semiautomated
CPT Codes: 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.

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
Container:Yellow (ACD, Solution A) tube available from laboratory
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


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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