Test:

Quantitative Organic Acids URINE (Includes orotic acid)

Mnemonic:

POAu

NHRPL Tariff code:

4221 + 4321 + 4188 + 4268

Tariff (including VAT):

R 2 780.05

Description:

Above price includes the

1. Assay, quantification and interpretation. Labstix, creatinine and uric acid included in all urine referals.
2. Labstix, creatinine and uric acid included in all urine referals.

Turnaround time:

As a single test: 10 work days from receipt of sample at CHM.

As part of a screening panel: 15 work days from receipt of sample at CHM.

Comments:

1. This test can be utilised in the diagnosis of an organic aciduria/emia and to evaluate if seondary markers associated with fatty acid oxidation disorders are present.
2. Medication intake/diet may significantly influence the analysis and subsequent result interpretation.
3. Bacterial, protein and blood contamination of the urine sample may result in false positive/negative findings.

Sample requirements, viability, stability:

1. 5‐7 ml random urine. If succinylacetone is requested, the container should be protected from light (cover in foil) and paperwork should indicate for succinylacetone analysis. Frozen overnight, send on dry ice.
2. Viability: 12 months – kept frozen. (Succinylacetone stability: no more than 7 days)
3. NO preservatives should be added.

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:

Gas chromatography‐mass spectrometry (GC‐MS)

Reference ranges & units:

Reference ranges: Age dependant.

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

Test:

Quantitative: Very Long Chain Fatty Acids, Phytanic acid, Pristanic acid SERUM

Mnemonic:

PPEROXb

NHRPL Tariff code:

4268 x 2

Tariff (including VAT):

R 5 279.60

Description:

Above price includes the assay, quantification (C22, C24, C26, pristanic acid and phytanic acid) and

interpretation.

Turnaround time:

As a single test: 10 work days from receipt of sample at CHM.

As part of a screening panel: 15 work days from receipt of sample at CHM.

Comments:

1. This assay is utilised in the diagnosis of peroxisomal disorders
2. The intake of peanut butter or a ketogenic diet should be avoided for 48 hours (or longer) before sample collection.

Sample requirements, viability, stability:

1. 2 ml SST (yellow top tube) serum, separated, transferred, frozen, send on dry ice
2. A fasting sample is required.
3. Sample collection for patients 3.1) below 18 months of age / 3.2) clinically unstable / 3.3) poor fasting tolerances should proceed 3‐4 hours AFTER feeding / meal.
4. Viability: 6 months – 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:

Gas chromatography‐mass spectrometry (GC‐MS)

Reference ranges & units:

Ref range available on request.

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

Test:

Pipecolic acid SERUM

Mnemonic:

PPIPEb

NHRPL Tariff code:

4194

Tariff (including VAT):

R 1 762.64

Description:

Above price includes the assay, quantification and interpretation

Turnaround time:

As a single test: 10 work days from receipt of sample at CHM.

As part of a screening panel: 15 work days from receipt of sample at CHM.

Transit stability / Sample viability:

Keep frozen, send on dry ice. Viability: 6 months – kept frozen

Comments:

1. This assay is utilised in the diagnosis of peroxisomal disorders
2. The intake of peanut butter or a ketogenic diet should be avoided for 48 hours (or longer) before sample collection.

Sample requirements, viability, stability:

1. 2 ml SST (yellow top tube) serum, separated, transferred, frozen, send on dry ice
2. A fasting sample is required.
3. Sample collection for patients 3.1) below 18 months of age / 3.2) clinically unstable / 3.3) poor fasting tolerances should proceed 3‐4 hours AFTER feeding / meal.
4. Viability: 6 months – kept frozen

Information Required with sample(s):

Absent clinical details may affect the interpretation of results and recommendations for further/additional

testing and subsequen 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:

Liquid Chromatography‐Tandem Mass Spectrometry (LC‐MS/MS)

Reference ranges & units:

Reference ranges: age specific. Units: µmol/L

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