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Hexosaminidase

Referred out for testing

Source Blood
Mnemonic BGLBL

BGL Test Name field: Hexosaminidase
Specimen Requirements

1 x 4 mL red top tube, NOT SST.

Minimum: 0.5 mL serum 

Plasma will NOT be accepted.

Specimen Handling

Send a copy of the requisition with the specimen.

PSC:
Centrifuge, transfer serum to aliquot tube, write "Red Top" on the aliquot tube, and transport on ice to DSC.

RRL:
Centrifuge, transfer serum to aliquot tube, write "Red Top" on the aliquot tube, and transport on ice to ACH.

Extra-regional:
Centrifuge, transfer serum to aliquot tube, write "Red Top" on the aliquot tube, and freeze prior to transport to DSC.

DSC:
Freeze serum upon receipt in lab; ensure frozen specimens do not thaw.

Additional Information This test is used for the diagnostic investigation of Tay-Sachs or Sandhoff disease in a patient based on clinical presentation.  For preconception testing for Tay-Sachs and Sandhoff disease carrier status, see Tay-Sachs Disease Carrier Testing.
Testing Location ACH Biochemical Genetics Lab
Testing Frequency Monthly; must notify ACH Biochemical Genetics Lab for priority turn-around.
Alternate Name(s)
Reference Interval Provided on test report.