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Galactose-1-Phosphate Uridyl Transferase

Referred out for testing

Source Blood
Mnemonic BGLBL

BGL Test Name field: G1PUT
Specimen Requirements

1 x 4 mL dark green top sodium heparin or 1 x 4 mL dark green lithium heparin tube, NOT PST.

No other specimen type or collection will be accepted.

Minimum: 3 mL whole blood

It is recommended that patients go to ACH OP lab for specimen collection. Patients should arrive before noon on weekdays to ensure that the ACH Biochemical Genetics Lab receives the specimen before 14:00. 

Specimen Handling

Do NOT centrifuge. Do NOT aliquot. Do NOT freeze.  Send a copy of the requisition with the specimen.

Send whole blood on ice. Ensure tube is not in direct contact with ice pack so specimen does not freeze.

Send a copy of the requisition with the specimen.

If not collected at ACH, transport whole blood immediately to ACH on ice. Ensure tube is not in direct contact with ice pack.

Sample MUST arrive at the ACH Biochemical Genetics Lab before 14:00 to be processed that day.

ACH Accession: Store any specimen received or collected after 14:00 in fridge.

Additional Information This test is for the investigation of classic glactosemia (i.e., galactose-1-phosphate uridyl transferase deficiency) in a patient based on clinical presentation.  For monitoring of known galactosemic patients on dietary therapy, please order Galactose-1-Phosphate, Quantitative.  For galactosemia screening test, please order Galactosemia Screening Test.
Testing Location ACH Biochemical Genetics Lab
Testing Frequency Weekly; must notify ACH Biochemical Genetics Lab for priority turn-around
Alternate Name(s) G1PUT; GALT
 
Reference Interval Provided on test report.