Tay Sachs Special Test for B-1 Variant


Sunquest Code:TAYMUG  
Epic Code:LAB6316Epic Name:Tay Sachs B-1 Variant
Synonyms:Hexosaminidase A (MUGS)
Methodology:Fluorometric manual method
CPT Code:83080
Turnaround Time:Specimens are sent to reference laboratory Mon-Fri; results are reported within 8-15 days.
Special Instructions:TEST NOT FOR ROUTINE TESTING. Reserved for carrier status determination on cases where the routine screening method demonstrated ambiguous result on the rare B-1 variant is suspected. Not valid in pregnant women. A signed copy of a genetic testing consent form should be obtained by the requesting facility and documented on the request form.
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:Blood
Optimal Volume:2 mL
Minimum\Peds Volume:0.5 mL
Container:Red (no gel) (Red or gold (gel))
Collection Instructions:Patient should fast for 4 hours.


Processing and Shipping

Specimen Processing:Centrifuge and aliquot 1 mL, 0.15 mL minimum. Store in freezer.
Shipping Instructions:Ship on dry ice.
Test Performed at or Referral Lab Lab Sendouts  (Mayo)
Referral Lab number:MUGS


Interpretive

Reference Range:

 

 

U/L

Normal

1.23-2.59

Intermediate

1.16-1.22

Carrier

0.58-1.15

 

 

Use:This test should be ordered when the patient exhibits Tay-Sachs symptoms, but has tested as normal, ambiguous or carrier by either NAGS/8774 Hexosaminidase A and Total Hexosaminidase, Serum or NAGW/8775 Hexosaminidase A and Total Hexosaminidase, Leukocytes.


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