Test:

Full Metabolic Evaluation URINE

Mnemonic:

PMSUR

NHRPL Tariff code:

4221 + 4321 + 4188 + 4248 + 4268 + (4285 x2) + 4216 + 4326 + 4194 + (4020 x 2) + 4022

Tariff (including VAT):

R 7 554.51

Description:

Biochemical analyses, quntification/qualification and interpretation: U‐Creatinine, U‐Uric Acid, U‐Labstix, U‐ Reducing substances, QU‐Organic acids, U‐TLC‐Oligosaccharides, QU‐Fructose, U‐MPS‐DMB‐screen, U‐MPS GAGs LCMS/MS, QU‐Amino Acids, QU‐Carnitine profile.

Turnaround time:

15 work days from receipt of sample at CHM

Comments:

1. This test can be utilised to rule in or exclude: An amino aciduria, organic acidemia/uria, Some fatty acid oxidation disorders, carbohydrate related disorders as well as mucopolysaccharidosis. Adding serum amino acids and acylcarnitines to the profile may be more informtive with regards to amino acidopathes, carnitine transporter related disoerd as well as the full spectrum of fatty acid oxidation disorders. The full profile does not exclude all known inborn errors of metabolic disorders as biomarkers for some may be limited.
2. Medication intake/diet may significantly influence the analysis and subsequent result interpretation.
3. Bacterial and blood contamination of the urine sample may result in false positive/negative findings.

Sample requirements, viability, stability:

1. 10‐15 ml urine, NO preservatives added, frozen overnight, send on dry ice.
2. Viability: 1 year – kept frozen

Information Required with sample(s):

Absent clinical details may affect the interpretation of results and recommendations for further/additional testing and subsequent diagnosis of a metabolic disorder. Consent to use below information (point 4) is required according POPIA regulation.

1. Clinical history of the patient. The referring clinician can complete the clinical history form on our website at https://pliem.co.za/test‐request‐form OR download the clinical history form from our website (same link) and send it with sample/email it to pliem@nwu.ac.za.
2. Other relevant medical reports (e.g. MRI brain, EEG, X‐Ray reports, sonar reports, biopsy reports, genetic testing reports, etc) which may assist in the diagnosis of a metabolic disorder can be emailed to pliem@nwu.ac.za.
3. Cumulative, routine pathology results of the patient (including archive results available) ‐ this must be provided and emailed to pliem@nwu.ac.za by the referring pathology laboratory.
4. Please complete the short consent form (https://pliem.co.za/test‐request‐form) and also indicate if the patient/family would like to be contacted by our rare disease biobank.

Method:

Pre‐analytical screen / GC‐MS / LC‐MS/MS / Spectrophotometric / Thin‐layer chromotography

Contact no for results & other enquiries:

018 299 2312 (Call centre): 1) Await for available agent to answer OR 2) Press 2 to leave a message

E‐mail address:

pliem@nwu.ac.za

Delivery address for samples:

Center for Human Metabolomics (CHM),
Sample reception (PLIEM/NBS/CRS) Building F3,
Room Number G19,
11 Hoffmann street
North-West University,
Potchefstroom, 2531