Hexosaminidase A and Total, Leukocytes/Molecular Reflex


Sunquest Code:NAGR  
Epic Code:LAB5612Epic Name:Hexo A Total Leuk Molec Reflex
Synonyms:Beta-N-Acetylglucosaminidase; Sandhoff Disease Carrier Screening; Tay Sachs Disease
Methodology:NAGR: Heat inactivation, 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


Processing and Shipping

Specimen Processing:Whole blood. Do not centrifuge. Ship within 24 hours of collection in the original container.
Shipping Instructions:Ship same day at refrigerated temperature; do not freeze. Must arrive Mon-Fri only. Specimens must arrive at the reference laboratory within 96 hours after collection.
Test Performed at or Referral Lab Lab Sendouts  (Mayo)
Referral Lab number:NAGR


Interpretive

Reference Range:

Hexosaminidase, Total

≤15 y

≥20 nmol/min/mg

≥16 y

16.4-36.2 nmol/min/mg

 

Hexosaminidase, Percent A

≤15 y

20-80% of total

≥16 y

63-75% of total

 

 

Use:

Hex A usually makes up >62% of the total hexosaminidase activity in leukocytes (normal = 63%-75% Hex A). The key factor for determining whether an individual is a carrier of, or affected with, Tay-Sachs disease is the percent Hex A in leukocytes:

 

63-75% Hex A

Normal (noncarrier)

58-62% Hex A

Ambiguous (molecular testing performed to discern carriers from noncarriers and to provide the most options for prenatal diagnosis).

Less than 58% Hex A

Carrier status (molecular testing performed to provide the most options for prenatal diagnosis.)

Less than 20% Hex A

TSD

 

 



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