Specimen Collection
Urine. 10 mL fresh, random specimen for initial screening.
Keep cool and freeze (-20
o
) if not sent to the laboratory within 4 hours.
* A brief clinical history is essential.
Reference Intervals
Results are reported qualitatively as part of urine metabolic profile.
Turnaround Time: 2 weeks
Test is available urgently if required contact laboratory on x22016 or via LabLink
Assay Method
Analysis is part of urine metabolic screening by tandem mass spectrometry
Diagnostic Use and Interpretation
These analyses are designed primarily for the investigation of patients suspected of having inherited disorders of amino acid metabolism. They are the test of choice for diagnosing disorders of amino acid transcellular transport e.g. Hartnups. They can be helpful in the investigation of renal tubular disease and in some genetic conditions, e.g. Pearsons, Cockayne, Lowe syndromes.
Contact Information
For further information contact laboratory: ext 22016 or via Lablink
or, contact the Metabolic Physician-on-call: 09 367 0000