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Hypoxanthine Phosphoribosyltransferase

Referred out for testing

Source Blood
Mnemonic BGLBL

BGL Test Name field: HGPRT
Specimen Requirements

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

Minimum: 1 mL whole blood

Do not collect in same tube with any other test.

Specimen Handling

Do NOT centrifuge. Do NOT freeze. Do NOT transfer to a secondary container. Send whole blood.
Send a copy of the requisition with the specimen.

PSC:
Transport whole blood on ice to DSC. Ensure tube is not in direct contact with ice pack so specimen does not freeze. Sample needs to arrive at the ACH Biochemical Genetics Lab within 24 hours of collection.

RRL:
Transport whole blood on ice to ACH. Ensure tube is not in direct contact with ice pack so specimen does not freeze. Sample needs to arrive at the ACH Biochemical Genetics Lab within 24 hours of collection.

Extra-regional: 
Transport whole blood on ice to ACH. Ensure tube is not in direct contact with ice pack so specimen does not freeze.  Sample need to arrive at the ACH Biochemical Genetics Lab within 24 hours of collection.

DSC:
Sample needs to arrive at the ACH Biochemical Genetics Lab within 24 hours of collection.  However, sample can be refrigerated (unseparated) overnight, depending on collection time.

Additional Information

This test is no longer available through the ACH Biochemical Genetics Lab.
Send the specimen to ACH Biochemical Genetics Lab who will prepare the sample and forward it to an outside reference lab.

This test is for the further investigation of a patient with a high clinical suspicion, or initial laboratory results consistent with, Lesh-Nyhan syndrome (a.k.a, hypoxanthine guanine phosphoribosyltransferase deficiency).  This test should NOT be used as a primary screen and may be cancelled if not adequately justified on the requisition.  Confirmation of hyperuricemia (see Urate - Urine) and/or evidence of elevated urine hypoxanthine, xanthine and uric acid (see Purine and Pyrimidine Profile - Urine) are required for testing to proceed.

Testing Location ACH Biochemical Genetics Lab
Testing Frequency

Sample sent out upon receipt.

Alternate Name(s) HGPRT; HPRT
Reference Interval Provided on test report.