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PTD - 165

Test Directory -  Urinary Amino Acids

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 Biochemical Genetics Unit, Addenbrookes Hospital 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

Collect sample as close to acute event as possible. If non-acute situation, a morning sample is preferred. Avoid faecal or bacterial contamination.

Limitations

 

Certain drugs (e.g. Ampicillin) may interfere with screening.

Turnaround Time

3 Weeks

Specimen

Urine

Volume

10.0 mL

Container

White Capped Universal

Samples should be transported to laboratory immediately.

Causes for Rejection

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

Reference range

Result reported as an interpretive comment.

Interpretation

Provided by the referral laboratory

Lab. Handling

Processing: Freeze primary sample at -20C in separating freezer (CB40).
Referral:
UAA and send or NOUAA and save in separating freezer (CB40) at -20C.


Version 1.1 / July 2014                                                                                                            Approved by: Consultant Biochemist