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Urine amino acids screen


Urine
Test performed by: LabPLUS Biochemical Genetics


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



Last updated at 13:57:29 19/05/2020