--- Query Results ---

  
Program:Genetics and Genomics
 
Test Name:Hypoxanthine Guanine Phosphoribosyltransferase (G&G South ACH)
Test Code:HPRT
Performing Site: Alberta Children's Hospital
Performing Dept:Biochemical Genetics
 
Availability:Sample sent out on receipt
TAT:N/A
 
Preferred Tube/Container:Pre-labelled Blood Spot Collection Card
 
Specimen Requirements:1. Self-collection of a sample by a patient using the pre-labelled blood spot card requires previous instruction by
     an ACH metabolic physician or an ACH metabolic dietician.
2. If a patient brings a pre-labelled blood spot card to the collection lab, warm a finger or heel before collection and
    fill a minimum of two circles on the card using a single drop of whole blood (blood must soak through to the back
    of the card.
3. Do NOT smear blood onto the card or apply to both sides of card. If a single drop is insufficient, a second drop
     can be applied.
4. Do NOT use a capillary tube to transfer blood to the card.
 
Min. Sample Required:2 full blood spots
 
Specimen Processing:1. Allow card to dry for a minimum of 4 hours after collection by clipping or lean card against an object on a clean,      flat, non-absorbent surface.
2. Keep card away from sunlight and heat.
3. Place dry collection card inside a biohazard bag.
 
Specimen Handling:Transport at room temperature.
 
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.
 
Requisition/Form:Submit request using Biochemical Genetics Laboratory Requisition.
Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.
 
Order Restrictions:This test is considered specialty testing; this test will be cancelled if sufficient clinical justification is not provided.
 
Indications: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, CLS) and/or evidence of elevated urine hypoxanthine, xanthine and uric acid (see Purine and Pyrimidine Profile - ACH) are required for testing to proceed.
Reference Interval:Provided on test report by referral lab.
 
 
Last Updated On:Tuesday, September 12, 2017
Date of Last Review:Jan 2 2018 12:00AM