Diagnostic

Diagnostic Services

Inborn errors of metabolism (IEMs) are a group of rare, inherited diseases that result from abnormalities in the body’s ability to break down nutrients from food or to synthesise certain essential molecules. At the NMP we use various sophisticated techniques and instrumentation in the diagnostic processes of identification of various metabolites associated with IEMs. 

Symptomatic presentation of IEMs are very unpredictable and in some cases non-specific. They can occur at any time from infancy to adulthood. Timely emergency intervention and treatment are paramount in improving the quality of life in these patients.

The work of our highly skilled Metabolomics team has led to major advances in our understanding of how genetic defects can lead to diseases and how to better treat those diseases.

Selective Lysosomal disorder screening [6-Plex] - BLOOD SPOT SAMPLES [DBS]

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Glycosaminoglycan (GAGs/MPS) analysis (Total and individual GAG assessment) - URINE

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Thin layer chromatography of mono-/oligosaccharides (qualitative) & quantitative fructose URINE

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Quantitative Organic Acids URINE (Includes orotic acid)

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

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Pipecolic acid SERUM

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Quantitative Acylcarnitine Profile URINE

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Quantitative Acylcarnitine Profile SERUM

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Quantitative Acylcarnitine Profile BLOOD CARD [DBS]

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Quantitative Amino Acids URINE

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Quantitative Amino Acids SERUM

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Quantitative Amino Acids BLOOD CARD [DBS]

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Quantitative Phenylalanine BLOOD CARD SAMPLE [DBS]

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Quantitative Glycine Specific Assay – CSF + SERUM

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Intact glycoprotein (transferrin) analysis to screen for congenital disorder of glycosylation (CDG) - SERUM

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Quantitative TMA (trimethylamine) URINE and Genotyping

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Biotinidase Enzyme Activity Determination - BLOOD CARD SAMPLE [DBS]

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Quantitative Galactose-1-Phosphate BLOOD CARD SAMPLE [DBS]

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Mitochondrial respiratory chain enzyme analyses (muscle)(NHLS)

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Immunoreactive trypsinogen (IRT): BLOOD CARD SAMPLE [DBS]

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Mitochondrial respiratory chain enzyme analyses (muscle)(PRIVATE)

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Full Metabolic Evaluation URINE

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Quick Links
Services
Get In Touch
  • Building F3, Lab G19
    Ground floor, 11 Hoffmann street, North-West University, Potchefstroom, 2539
  • +27 (0)18 299 2312

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Selective Lysosomal disorder screening [6-Plex] - BLOOD SPOT SAMPLES [DBS]

  • NHRPL Tariff Code:
  • N/A

  • Tariff (Including VAT):
  • Sponsored Testing

  • Pneumonic:
  • PPLSDg
Enquire Now
  • Turnaround time:
  • 10 work days from receipt of sample at CHM. The turnaround time does not apply to tests that were referred internationally.

  • Method:
  • Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Description

Quantitative enzyme activity analysis of acid beta-glucosidase (GBA), acid alpha-glucosidase (GAA), Sphingomyelinase (SMPD1), alpha-galactosidase (GLA), galactocerebrosidase (GALC), alpha-L-iduronidase (IDUA). The tests also include the following reflex international testing based on the following criteria:
1. Gaucher disease is suspected and Gaucher/ASMD is selected on the request form: International referral for lyso-GL1 testing.
2. Mucopolysaccharidosis is supected and MPS panel is selected on the request form: International referral for expanded mucopolysaccharidosis testing including MPS II, IIIb, IVa, VI and VII.
3. Fabry disease is suspected in a female patient and Fabry disease is selected on the request form: International referral for lyso-GL3 testing.
4. International referral for genetic testing if enzyme testing is suggestive of Gaucher, Niemann-Pick A/B, Pompe, Fabry or MPS I, II, IIIb, IVa, VI or VII. Krabbe disease is not included.
5. International referral for lyso-GL1 or lyso-GL3 monitoring in patients that were diagnosed with Gaucher or Fabry disaease respectively.
Please note that selecting all options or none will result in no reflex testing.

Comments

The above test can be utilised to rule in or exclude the following disorders on enzymatic and subsequent genetic level. These include: Fabry disease (α-galactosidase def), Krabbe disease (galactocerebrosidase def), Gaucher disease (ß-glucosidase def), Niemann-Pick disease A / B (sphingomyelinase def), MPS I (α-L-iduronidase def), Pompe / Glycogen storage defect type II (α-glucosidase def). Lyso-Gl1 substrate accumulation for Gaucher disease and Lyso-Gl3 substrate accumulation in female Fabry patients can be performed upon request.

Sample requirements, viability, stability:

1. All samples must be collected using kits provided by the CHM for collection. Sample collection should be done according to the instructions provided in the kit.
2. Allow blood to dry on the filter paper at ambient temperature in a horizontal position for at least 2 hours.

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.

Glycosaminoglycan (GAGs/MPS) analysis (Total and individual GAG assessment) - URINE

  • NHRPL Tariff Code:
  • 4221 + 4321 + 4188 + 4216 + 4326

  • Tariff (Including VAT):
  • R 1,546.32

  • Pneumonic:
  • PDMBu & PGAGu
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  • 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.

  • Method:
  • Spectrophotometry + Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Description

Above price includes the assay and interpretation:
1) Quantitative: Total GAGs.
2) Qualitative interpretation: Absent/present: Heparan sulfate, Dermatan sulfate, Chondriotin Sulfate.
3) Note: Labstix, creatinine and uric acid are included in all urine referals.

Comments

1. This test is utilised in the diagnosis of MPS I, II, III, VI, VII. MPS IV cannot be excluded by the performed analysis.
2. Medication intake 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 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 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

Thin layer chromatography of mono-/oligosaccharides (qualitative) & quantitative fructose URINE

  • NHRPL Tariff Code:
  • 4221 + 4321 + 4188 + (4285 x 2)

  • Tariff (Including VAT):
  • R 509.89

  • Pneumonic:
  • POLIGOu & PFRUCu
Enquire Now
  • 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.

  • Method:
  • Carbohydrates: Thin layer chromatography assay
    Fructose : Spectrophotometric assay

Description

Above price includes the assay and interpretation:
1. Quantitative Interpretation: Fructose excretion
2. Qualitative interpretation: Mono-/oligosaccharide excretion pattern
3. Labstix, creatinine and uric acid included in all urine referals

Comments

1. This test is utilised to evaluate if a monosaccharide-related disorder or oligosaccharidosis may be 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 ml random urine. 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 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.

Quantitative Organic Acids URINE (Includes orotic acid)

  • NHRPL Tariff Code:
  • 4221 + 4321 + 4188 + 4268

  • Tariff (Including VAT):
  • R 2,780.05

  • Pneumonic:
  • POAu
Enquire Now
  • 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.

  • Method:
  • Gas chromatography-mass spectrometry (GC-MS)

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.

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.

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

  • NHRPL Tariff Code:
  • 4268 x 2

  • Tariff (Including VAT):
  • R 5,279.60

  • Pneumonic:
  • PPEROXb
Enquire Now
  • 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.

  • Method:
  • Gas chromatography-mass spectrometry (GC-MS)

Description

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

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. 12 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.

Pipecolic acid SERUM

  • NHRPL Tariff Code:
  • 4194

  • Tariff (Including VAT):
  • R 1,762.64

  • Pneumonic:
  • PPIPEb
Enquire Now
  • 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.

  • Method:
  • Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Description

Above price includes the assay, quantification and interpretation

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.

Quantitative Acylcarnitine Profile URINE

  • NHRPL Tariff Code:
  • 4020 x 2 (Free carnitine)
    4022 x 1 (Acylcarnitines)
    4221 + 4188 + 4321

  • Tariff (Including VAT):
  • R 1,347.83

  • Pneumonic:
  • PCARNu
Enquire Now
  • 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.

  • Method:
  • Tandem Mass-spectrometry

Description

Above price includes the assay, quantification and interpretation. Labstix, creatinine and uric acid included in all urine referals

Comments

1. Test is informative with regards to carnitine uptake disorder and short/medium chain fatty acid disorders.
2. Medication intake 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.
4, 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 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.

Quantitative Acylcarnitine Profile SERUM

  • NHRPL Tariff Code:
  • 4020 x 2 (Free carnitine)
    4022 x 1 (Acylcarnitine)

  • Tariff (Including VAT):
  • R 1,207.58

  • Pneumonic:
  • PCARNb
Enquire Now
  • 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.

  • Method:
  • Tandem Mass-spectrometry

Description

Above price includes the assay, quantification and interpretation

Comments

1.This test is informative with regards to the presence of carnitine transporter related disorders, fatty acid oxidation disorders and is supportive in the diagnosis of organic acidemias.
2. Medication intake may significantly influence the analysis and subsequent result interpretation.
3. 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 (pre-prandial): 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 leade to the reporting falsly elevated long-chain acylcarnitine.
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.

Quantitative Acylcarnitine Profile BLOOD CARD [DBS]

  • NHRPL Tariff Code:
  • 4020 x 2 (Free carnitine)
    4022 x 1 (Acylcarnitine)

  • Tariff (Including VAT):
  • R 622.81

  • Pneumonic:
  • PCARNg
Enquire Now
  • 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.

  • Method:
  • Tandem Mass-Spectrometry

Description

Above price includes the assay, quantification and interpretation

Comments

1. This test is informative with regards to carnitine transporter related disorder . 2. 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.

Quantitative Amino Acids URINE

  • NHRPL Tariff Code:
  • 4221 + 4321 + 4188 + 4194

  • Tariff (Including VAT):
  • R 1,902.89

  • Pneumonic:
  • PAAu
Enquire Now
  • 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.

  • Method:
  • Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

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

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.

Quantitative Amino Acids SERUM

  • NHRPL Tariff Code:
  • 4194

  • Tariff (Including VAT):
  • R 1,762.64

  • Pneumonic:
  • PAAb
Enquire Now
  • 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.

  • Method:
  • Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

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)

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.

Quantitative Amino Acids BLOOD CARD [DBS]

  • NHRPL Tariff Code:
  • 4194

  • Tariff (Including VAT):
  • R 622.81

  • Pneumonic:
  • PAAg
Enquire Now
  • 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.

  • Method:
  • Tandem Mass Spectrometry

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.

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.

Quantitative Phenylalanine BLOOD CARD SAMPLE [DBS]

  • NHRPL Tariff Code:
  • 4238

  • Tariff (Including VAT):
  • R 622.81

  • Pneumonic:
  • NPPKU
Enquire Now
  • Turnaround time:
  • 10 Work days from receipt of sample at CHM.

  • Method:
  • Tandem-Mass spectrometry

Description

Above price includes the assay, quantification and interpretation

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.

Quantitative Glycine Specific Assay – CSF + SERUM

  • NHRPL Tariff Code:
  • 4194 – Serum Glycine
    4194 – CSF Glycine

  • Tariff (Including VAT):
  • R 3,524.09

  • Pneumonic:
  • PGLYs_csf
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  • Turnaround time:
  • 15 work days from receipt of sample at CHM.

  • Method:
  • Liquid chromatography Tandemmass spectrometry (LC-MS/MS). Note: Method is validated for serum but not for CSF as sample matrix

Description

Above price includes the assay , quantification and interpretation

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.

Intact glycoprotein (transferrin) analysis to screen for congenital disorder of glycosylation (CDG) - Serum

  • NHRPL Tariff Code:
  • 4268

  • Tariff (Including VAT):
  • R 2,639.80

  • Pneumonic:
  • PCDGQUANT
Enquire Now
  • Turnaround time:
  • 30 work days from receipt of sample at CHM (analysis performed at external lab)

  • Method:
  • LC-MS/MS glycoprotein intact (transferrin) analysis - Send-away test

Description

Above price includes the assay, quantification and interpretation

Comments

1. This test is utilised in the diagnosis of congential disorders of glycosylation. This include type 1 and to some extent type 2 subtypes. Some CDGs (such as ALG13-CDG) do not present with an abnormal glycoprotein profile.
2. Blood transfussion may influence the analysis. We recommend this test 2 weeks after transfussion to prevent false negative.

Sample requirements, viability, stability:

1. VERY IMPORTANT: 2 ml SST serum sample.
2. Serum sample: (Spin samples down, Separate serum, transfer serum to another tube, freeze overnight, send on dry ice.
3. Viability: Serum – 6 months.

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.

Quantitative TMA (trimethylamine) URINE and Genotyping

  • NHRPL Tariff Code:
  • 4268 x 2 (Urine analysis)
    4268 x 2 (DNA analysis)

  • Tariff (Including VAT):
  • R 10,559.19

  • Pneumonic:
  • PTMA
Enquire Now
  • 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.

Description

Above price includes the assay, quantification and interpretation

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.

Biotinidase Enzyme Activity Determination - BLOOD CARD SAMPLE [DBS]

  • NHRPL Tariff Code:
  • 4268

  • Tariff (Including VAT):
  • R1,133.42

  • Pneumonic:
  • NPBIOT
Enquire Now
  • Turnaround time:
  • 10 work days from receipt of sample at CHM

  • Method:
  • Biotinidase assay kit: PERKIN ELMER

Description

Above price includes the assay, quantification and interpretation

Comments

1. This test is utilised in the diagnosis of profound or partial biotinidase deficiency
2. Blood transfussion may influence the analysis. We recommend this test 72hrs collection after the transfussion to avoid false negative findings.

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 the biotinidase activity
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.

Quantitative Galactose-1-Phosphate BLOOD CARD SAMPLE [DBS]

  • NHRPL Tariff Code:
  • 4238

  • Tariff (Including VAT):
  • R 622.81

  • Pneumonic:
  • NPGAL
Enquire Now
  • Turnaround time:
  • 10 work days from receipt of sample at CHM

  • Method:
  • Tandem-Mass Spectrometry

Description

Above price includes the assay, quantification and interpretation

Comments

1. This test can be utilised in the diagnosis of galactosemia due to GALT deficiency OR can be used as marker in treatment monitoring
2. Suspected GALT patients already on a lactose/galactose free diet may have normal galactose-1-phosphate levels. In this instance it cannot be used in 1st line diagnostics.

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.

Mitochondrial respiratory chain enzyme analyses (muscle)(NHLS)

  • 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)

  • Pneumonic:
  • PMITOnhls
Enquire Now
  • Turnaround time:
  • 35-60 work days from receipt of sample at CHM

  • Method:
  • Spectrophotometric assay

Description

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

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.

Immunoreactive trypsinogen (IRT): BLOOD CARD SAMPLE [DBS]

  • NHRPL Tariff Code:
  • 4592

  • Tariff (Including VAT):
  • R 622.81

  • Pneumonic:
  • NPIRT
Enquire Now
  • Turnaround time:
  • 10 work days from receipt of sample at CHM

  • Method:
  • Immunochemistry

Description

Above price includes the assay, quantification and interpretation

Comments

1. This test can be utilsed as a screening assay for Cystic fibrosis in neonates and early infancy ( < 24 days of life).

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.

Mitochondrial respiratory chain enzyme analyses (muscle)(PRIVATE)

  • NHRPL Tariff Code:
  • 4256 x 6 (6 enzymes) + 4117 x 1 (protein assay)

  • Tariff (Including VAT):
  • R 11,979.53

  • Pneumonic:
  • MITO2018
Enquire Now
  • Turnaround time:
  • 35-60 work days from receipt of sample at CHM

  • Method:
  • Spectrophotometric assay

Description

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

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.

Full Metabolic Evaluation URINE

  • NHRPL Tariff Code:
  • 4221 + 4321 + 4188 + 4248 + 4268 + (4285 x2) + 4216 + 4326 + 4194 + (4020 x 2) + 4022

  • Tariff (Including VAT):
  • R 7,554.51

  • Pneumonic:
  • PMSUR
Enquire Now
  • Turnaround time:
  • 15 work days from receipt of sample at CHM

  • Method:
  • Pre-analytical screen / GC-MS / LC-MS/MS / Spectrophotometric / Thin-layer chromotography

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.

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.

GCxGC-TOFMS Untargeted

  • Sample matrix (Volume needed):
  • Serum (100-200 uL)
  • Urine (1-2 mL)
  • Tissue (100 mg)
  • Other (Please consult)

  • Price per sample (VAT incl):
  • R 850
  • Analytical Technique:
  • GCxGC-TOFMS
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Compound list

Spectra identified via comparison with library spectra

NMR Untargeted

  • Sample matrix (Volume needed):
  • Serum (1,5mL)
  • Urine (1-2mL)
  • CSF (150 - 200 uL)
  • Breastmilk (2-3 mL)
  • Tissue (100 mg)
  • Other (Please consult)

  • Price per sample (VAT incl):
  • R 550 (raw data)
  • R 850 (raw data + data analyses)
  • Analytical Technique:
  • NMR
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Compound list

Spectra identified via comparison with library spectra

LDL Cholesterol Subfractions

  • Sample matrix (Volume needed):
  • Fasting Serum (50 - 100 uL)

  • Price per sample (VAT incl):
  • R 900 (Client should provide total cholesterol value)
  • Analytical Technique:
  • Lipoprint - Gel Electrophoresis
Enquire Now

Compound list

The LDL subfraction test measures up to twelve lipoprotein fractions and subfractions (VLDL, mid-bands A-C and LDL 1 through 7)

HDL Cholesterol Subfractions

  • Sample matrix (Volume needed):
  • Fasting Serum (50 - 100 uL)

  • Price per sample (VAT incl):
  • R 900 (Client should provide total cholesterol value)
  • Analytical Technique:
  • Lipoprint - Gel Electrophoresis
Enquire Now

Compound list

Separates and quantifies up to 10 HDL subfractions, classified from large buoyant HDL lipoproteins (HDL-L) to small-dense HDL lipoproteins (HDL-S).