Test:

Quantitative Amino Acids URINE

Mnemonic:

PAAu

NHRPL Tariff code:

4221 + 4321 + 4188 + 4194

Tariff (including VAT):

R 1 902.89

Description:

Above price includes the pre‐analytical assessment of the sample (labstix, creatinine and uric acid) and subsequent analysis, quantification and interpretation. Quantitative reporting for: Alanine, alpha‐ aminobutyric acid, asparagine, alpha‐aminoadipic acid, anserine, arginine, argininosuccinic acid, beta‐ alanine, beta‐aminoisobutyric acid, carnosine, citrulline, cystine, cystathionine, ethanolamine, glutamine, histidine, homocystine, homocitrulline, 4‐hydroxyproline, isoleucine, leucine, lysine, methionine, 1‐ methylhystidine, 3‐methylhistidine, phosphoethanolamine, phosphoserine, proline, phenylalanine, ornithine, pipecolic acid, S‐adenosylhomocysteine, sarcosine, saccharopine, serine, taurine, threonine, tyrosine, tryptophane, serine, valine.

Qualitative if requested: Sulfocysteine (marker for Molybdenum‐cofactor deficiency). 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 is informative with regards to amino acid transporter related disorders as well as supportive profiling for amino acidopathies.
2. Medication intake may result in the secondary elevation of glycine concentration.
3. Aspartic acid and glutamic acid levels are not reported due to the unpredictibily of their stability in biological samples.
4. Bacterial, protein and blood contamination of the urine sample may result in false positive/negative findings.
5. Labstix, creatinine and uric acid included in all urine referals.

Sample requirements, viability, stability:

1. 2 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:

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

Reference range & 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 Amino Acids SERUM

Mnemonic:

PAAb

NHRPL Tariff code:

4194

Tariff (including VAT):

R 1 762.64

Description:

Quantitative reporting for: Alanine, alpha‐aminobutyric acid, asparagine, alpha‐aminoadipic acid, anserine, arginine, argininosuccinic acid, beta‐alanine, beta‐aminoisobutyric acid, carnosine, citrulline, cystine, cystathionine, ethanolamine, glutamine, histidine, homocystine, homocitrulline, 4‐hydroxyproline, isoleucine, leucine, lysine, methionine, 1‐methylhystidine, 3‐methylhistidine, phosphoethanolamine, phosphoserine, proline, phenylalanine, ornithine, pipecolic acid, S‐adenosylhomocysteine, sarcosine, saccharopine, serine, taurine, threonine, tyrosine, tryptophane, serine, valine.

Qualitative if requested: Sulfocysteine (marker for Molybdenum‐cofactor deficiency)

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 can be utilised to rule in or exclude amino acidopathies
2. Medication intakemay result in the secondary elevation of the glycine concentration.
3. Aspartic acid and glutamic acid levels are not reported due to the unpredictibily of their stability in biological samples.
4. Protein and blood contamination of the serum sample may result in false positive/negative findings.

Sample requirements, viability, stability:

1. 1 ml SST (yellow top tube) serum: Spin samples down, Separate serum, transfer serum to another tube, freeze overnight, send on dry ice.
2. A haemolysed sample is not viable for testing as this may lead to false positive/negative findings, specifically with regards to ornithine and arginine levels.
3. 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:

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

Reference range & 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 Amino Acids BLOOD CARD [DBS]

Mnemonic:

PAAg

NHRPL Tariff code:

4194

Tariff (including VAT):

R 622.81

Description:

1. Above price includes the assay, quantification and interpretation of Selected amino acids including citrulline, tyrosine, phenylalanine, methionine, isoleucine/leucine, valine.
2. List will be exdented in 2023 after validation of other amino acids.

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 analysis can be utilsed to only rule in or exclude selective amino acid related disorders associated with above mentioned amino acids.

3. Medication intake may significantly influence the analysis and subsequent result interpretation.

Sample requirements, viability, stability:

1. 1x Dried blood spot [DBS] sample – 4 complete circles
2. Keep in sealed paper envelope after dried according to requirements, send separate from other wet specimens and within 2 days after collection. Humidity and extreme temperature may influence the stability of metabolites
3. Viability: 1 month, kept in a dry, cool place.

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:

Tandem Mass Spectrometry

Reference range & 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