Test:

Quantitative Phenylalanine BLOOD CARD SAMPLE [DBS]

Mnemonic:

NPPKU

NHRPL Tariff code:

4238

Tariff (including VAT):

R 622.81

Description:

Above price includes the assay, quantification and interpretation

Turnaround time:

10 Work days from receipt of sample at CHM.

Comments:

1. This test can be utilised in the diagnosis of hyperphenylalaninemia (including PKU) and treatment monitoring of the related condition
2. Analysis of will run on tuesdays and thursdays

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

Test:

Quantitative Glycine Specific Assay – CSF + SERUM

Mnemonic:

PGLYs_csf

NHRPL Tariff code:

4194 – Serum Glycine 4194 – CSF Glycine

Tariff (including VAT):

R 3 524.09

Description:

Above price includes the assay , quantification and interpretation

Turnaround time:

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 to evaluate if non‐ketotic hyperglycinemia (NKHG) is present/absent
2. Medication (mostly anticonvulsants intake may significantly influence the analysis and subsequent result interpretation.
3. Blood contaminated CSF sample is not viable for testing as this may lead to a false positive diagnosis.

Haemolysis of the serum may to some extent influence the result interpretation and should be avoided.

Sample requirements, viability, stability:

Serum + CSF required (same sample date )

1. 2 ml SST serum (yellow top), separated, transferred to another tube, kept frozen), sent on dry ice AND
2. 1 ml CSF (cerebrospinal fluid) sample, kept frozen, sent on dry ice.
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 Tandemmass spectrometry (LC‐MS/MS). Note: Method is validated for serum but not for CSF as sample matrix

Reference ranges & units:

Values will be reported in µmol/l according to ref ranges provided in: Hennermann et al 2012. Prediction of long‐term outcome in glycine encephalopathy: a clinical survey J Inherit Metab Dis 35:253–261.

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