--- Query Results --- | |||
| Organization: | Alberta Precision Laboratories | ||
| Message Alert: | PLEASE NOTE: This Test Directory is in an interim state and due to changes pertaining to the DynaLIFE transition, performing site for routing has not been updated. Please refer to Laboratory Information System for appropriate routing. | ||
| Test Name/Synonym: | Hypoxanthine Guanine Phosphoribosyltransferase (Referred Test) (Synonym: HPRT, HGPRT, Lesch-Nyhan Syndrome) | ||
| Ordering Alert: | This test is for the further investigation of a patient with a high clinical suspicion, or initial laboratory results consistent with, Lesch-Nyhan syndrome (i.e., hypoxanthine guanine phosphoribosyltransferase deficiency). This test should NOT be used as a primary screen and may be cancelled if not adequately justified. 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. The healthcare professional ordering this test must call the Alberta Children’s Hospital (ACH) Biochemical Genetics Laboratory (403) 955-7379 or the University of Alberta Hospital (UAH) Biochemical Genetics Laboratory (780) 407-8820 at least 24 hours in advance to inform the lab of, and obtain any necessary information pertaining to, location and timing of the collection. | ||
| Collection Alert: | For the South sector, collections are recommended to be done at the Alberta Children’s Hospital Outpatient Lab between 0800h – 1200h. Before collection of specimens, call ACH Biochemical Genetics lab at (403) 955-7379 or UAH Biochemical Genetics lab at (780) 407-8820. Collect Monday through Friday only, excluding holidays. Specimens should be collected early enough in the day to arrive in the ACH or UAH Biochemical Genetics Lab by 12:00 on day of collection. Consult with the lab if other arrangements are necessary. | ||
| Shipping and Handling Alert: | Ship whole blood at room temperature to the ACH or UAH Biochemical Genetics Lab to prepare the red cell pellet. Specimens must be received in the ACH or UAH Biochemical Genetics Lab by 12:00 noon. | ||
| LABID (Connect Care): | LAB4024 | ||
| Primary Container: | See Specimen Collection Requirements | ||
| Specimen Collection Requirements: | Testing is referred out to Amsterdam UMC, please view Hypoxanthine-guanine phosphoribosyltransferase details for further information. | ||
| Test Resources: | Submit request using the applicable requisition or Connect Care online order entry:
Please ensure all required information, including patient's clinical history/indication, is provided on the requisition. | ||
| Testing Area: | Referred Out Specimens should be sent to UAH External Send Out bench (North) or ACH Genetics & Genomics (South). | ||
| Performing Site: | Referred out to Amsterdam University Medical Centre. | ||
| Last Updated On: | Monday, November 27, 2023 | ||
| Date of Last Review: | Aug 1 2022 12:00AM | ||
