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Adenine Phosphoribosyltransferase

Referred out for testing

Source Blood

 
 
Mnemonic BGLBL

BGL Test Name field: APRT
   
Specimen Requirements

1 x 4 mL lavender EDTA tube.

Minimum: 4 mL whole blood

Do not collect in the 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 needs 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 then 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, adenine phosphoribosyltransferase deficiency.  This test should NOT be used as a primary screen and may be cancelled if not adequately justified on the requisition.  Clinical findings of urolithiasis or crystalline nephropathy AND evidence of elevated urine 2,8-dihydroxyadenine (2,8-DHA or DHA; using test 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) APRT
 
Reference Interval Provided on test report.