Test:

Quantitative TMA (trimethylamine) URINE and Genotyping

Mnemonic:

PTMA

NHRPL Tariff code:

4268 x 2 (Urine analysis)

4268 x 2 (DNA analysis)

Tariff (including VAT):

R 10 559.19

Description:

Above price includes the assay, quantification and interpretation

Turnaround time:

3 months (work days, excluding public holidays and weekends) for TMA urine analysis and genotyping of the FMO3 gene from receipt of sample(s) at CHM.

Comments:

1, NO preservatives should be added.

2. No random sample without TMA loading will be tested.
3. TMA loading is a requirement for this assay – protocol and other information available from our laboratory (www.pliem.co.za).

Sample requirements, viability, stability:

1. 10 ml urine collected at each time interview [see TMA loading protocol].
2. Keep samples frozen at all times. Samples must reach lab within 72 hours after completion of the loading test to assure stability of TMA within the urine sample
3. Viability: samples must reach our laboratory within 72 hours after loading assay was performed.

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 including the TMA symptom observation form. 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.

Reference ranges & units:

Base line TMA concentration (mmol/mol crear) as well as FMO metabolic capacity (%) are reported (not age dependent).

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:

Mitochondrial respiratory chain enzyme analyses (muscle)(NHLS)

Mnemonic:

PMITOnhls

NHRPL Tariff code:

4256 x 6 (6 enzymes) + 4117 x 1 (protein assay)

Tariff (including VAT):

R 5000.00 (Tariff only applicable to NHLS‐referrals)

Description:

Above price includes the assay, quantification and and results interpretation for complexes I, II, II+III, III, IV and citrate synthase.

Turnaround time:

35‐60 work days from receipt of sample at CHM

Comments:

1. This analysis is utilised to rule in or evaluate if mitochondrial complex I, II, combined II+III, II or IV may be present.
2. Providing the blood lactate, lactate/pyruvate ratio (performed at routine path lab) result is advised when submitting the sample for testing.

Sample requirements, viability, stability:

1. A minimum of 100 mg skeletal muscle sample (preferably from vastus lateralis) is required (size: ± half the size of a ten cent coin).
2. The biopsy must be placed as is (without any additional preservatives or liquids) in a 1.5ml eppendorf tube (eppie) on dry ice, IMMEDIATELY after the muscle was collected.
3. Freeze the tube with sample immediately after collection at ‐80°C. The samples should be stored at ‐80°C until it can be transported to our laboratory.
4. The samples must be shipped on dry ice and sent early in the week to prevent weekend delays

Note: Samples will not be analysed if above protocol is not followed.

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:

Spectrophotometric assay

Reference range & units:

Units: nmol/min/UCS (UCS = µmol/min citrate synthase activity). Information with regards to reference ranges will be provided with profile.

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:

URGENT: Muscle biopsy sample on dry ice.

Center for Human Metabolomics (CHM), Sample reception (PLIEM/NBS/CRS) Building F3, Room Number G19, 11 Hoffmann street

North West University, Potchefstroom, 2531

Test:

Mitochondrial respiratory chain enzyme analyses (muscle)(PRIVATE)

Mnemonic:

MITO2018

NHRPL Tariff code:

4256 x 6 (6 enzymes) + 4117 x 1 (protein assay)

Tariff (including VAT):

R 11 979.53

Description:

Above price includes the assay, quantification and and results interpretation for complexes I, II, II+III, III, IV and citrate synthase.

Turnaround time:

35‐60 work days from receipt of sample at CHM

Comments:

This analysis is utilised to rule in or evaluate if mitochondrial complex I, II, combined II+III, II or IV may be present.

2. Providing the blood lactate, lactate/pyruvate ratio (performed at routine path lab) result is advised when submitting the sample for testing.

Sample requirements, viability, stability:

1. A minimum of 100 mg skeletal muscle sample (preferably from vastus lateralis) is required (size: ± half the size of a ten cent coin).
2. The biopsy must be placed as is (without any additional preservatives or liquids) in a 1.5ml eppendorf tube (eppie) on dry ice, IMMEDIATELY after the muscle was collected.
3. Freeze the tube with sample immediately after collection at ‐80°C. The samples should be stored at ‐80°C until it can be transported to our laboratory.
4. The samples must be shipped on dry ice, early in the week to prevent weekend delays

Note: Samples will not be analysed if above protocol is not followed.

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:

Spectrophotometric assay

Reference range & units:

Units: nmol/min/UCS (UCS = µmol/min citrate synthase activity). Information with regards to reference ranges will be provided with profile.

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:

URGENT: Muscle biopsy sample on dry ice.

Center for Human Metabolomics (CHM), Sample reception (PLIEM/NBS/CRS) Building F3, Room Number G19, 11 Hoffmann street

North West University, Potchefstroom, 2531