Specimen Collection
Urine.
10mL fresh, random specimen.
Keep cool and freeze (-20C) if not sent to the laboratory immediately.
A brief clinical history is essential.
Reference Intervals
Results are reported qualitatively as part of urine metabolic profile.
UOM
10-40% (Semi-quantitative assay)
Turnaround Time: Within 2 weeks
Test is available urgently if required contact laboratory on x22016 or via LabLink
Assay Method
Tandem mass spectrometry
Diagnostic Use and Interpretation
This test, previously known as Urine amino acids screen, includes screening for urine amino acids and purine/pyrimidine disorders, creatine synthesis, and pyridoxine-dependent epilepsy. It compliments organic acids and mucopolysaccharide screening. This test may not detect very rare errors of metabolism. If an inborn error is suspected clinically, please contact the metabolic physician on-call.
The urine metabolic profile covers several markers of purines and pyrimidines which screen for Lesch-Nyhan syndrome, xanthine oxidase deficiency, purine nucleoside phosphorylase deficiency, thymidine phosphorylase deficiency, and beta-ureidopropionase deficiency. A full analysis of urine purine and pyrimidine is available as a sendaway test, if required.
Creatine synthesis disorder
Purines and pyrimidines
Pyridoxine-dependent epilepsy
The urine metabolic profile covers several markers of purines and pyrimidines which screen for Lesch-Nyhan syndrome, xanthine oxidase deficiency, purine nucleoside phosphorylase deficiency, thymidine phosphorylase deficiency, and beta-ureidopropionase deficiency. A full analysis of urine purine and pyrimidine is available as a sendaway test. Please click on the link below:
Purines and pyrimidines
Contact Information
For further information contact laboratory: ext 22016 or via Lablink
or, contact the Metabolic Physician-on-call: 09 367 0000
Specimen Transport Instructions for Referring Laboratories
Keep cool and freeze (-20 C ) if not sent to the laboratory within 4 hours.