Clinical Indications

Urine amino acids are only indicated for investigation of sulphite oxidase deficiency, homocystinuria, renal transport defects including cystinuria and proximal renal tubular dysfunction. For other metabolic disorders, plasma should be analysed.

Request Form 

Combined Pathology Blood form (Yellow/Black or Blue for GP's) and Metabolic screening questionnaire

Availability

Analysed by referral laboratory if specific criteria met.

Specific Criteria

Requests must be accompanied by a completed Metabolic screening questionnaire which has been authorised by a Consultant.

Patient Preparation

Certain drugs (e.g. Ampicillin) may interfere with screening. Collect sample as close to acute event as possible. If non-acute situation, a morning sample is preferred. Avoid faecal or bacterial contamination.

Turnaround Time

3 Weeks

Specimen

Urine

Volume

5.0 ml

Container

White Capped Universal

Collection

Samples should be transported to laboratory immediately.

Lab. Handling

Separate into 2 aliquots and freeze at minus 20’C. (UAA & send; NOUAA & save)

Causes for Rejection

Unlabelled sample.
Not meeting specific criteria for analysis. 
Delay in sample reaching laboratory
Urine pH >8.