Resources for Medical practitioners

IEM Test Selection Tool

The IEM Test Selection Tool helps clinicians choose the right metabolic and pathology tests for suspected inborn errors of metabolism and generate a supporting referral letter based on the patient’s clinical presentation.

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AccelRare ®

accelRare® is a pre-diagnostic solution for rare diseases. accelRare® uses the medvir tool, certified as a Class I medical device, for which Medical Intelligence Service is the manufacturer and Sanofi the distributor.

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RareMDx™

RareMDx™ is a rare disease–focused diagnostic tool for medical professionals, covering 4,100+ rare diseases and 7,800+ signs, symptoms, and biomarkers, each weighted according to its relevance to one or more rare diseases. Based on selected phenotypes, the platform generates a ranked differential diagnosis (DDx) listing the 10 most probable conditions and much more.

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IEMbase

IEMbase is an online knowledge base and decision-support system for diagnosing inborn errors of metabolism.

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accelRare® is a pre-diagnostic solution for rare diseases. accelRare® uses the medvir tool, certified as a Class I medical device, for which Medical Intelligence Service is the manufacturer and Sanofi the distributor.

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Receive the Form with PDF Attachment

To obtain a copy of this form as PDF attachment for printing, please provide your email address below.

Provide clinical information

Clinical information may greatly assist in the interpretation of metabolic results and additional recommendations. The clinical information can be provided here

Print the test selection form from email and hand to the patient or phlebotomist for sample collection

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The National Metabolomics Platform is a specialized laboratory dedicated to diagnosing rare and inherited metabolic diseases. Located on the Potchefstroom campus of North-West University, the laboratory may occasionally require additional tests, including genetic testing, to confirm a diagnosis. If these tests incur additional costs, the laboratory will seek prior approval from you and/or your clinician. To ensure diagnostic accuracy, clinical information and other reports may also be requested. Such requests are made solely to enhance the precision of the diagnosis. Following a diagnosis, the laboratory may contact you about potential research projects for which you might be eligible. These projects aim to improve the understanding and characterization of rare diseases and offer patients opportunities to participate in international clinical trials. Participation in these projects is entirely voluntary, and there is no obligation to take part if contacted. All research is conducted under the oversight of the NWU Health Research Ethics Committee.

GCxGC-TOFMS Untargeted

  • Sample matrix (Volume needed):
  • Serum (100-200 uL)
  • Urine (1-2 mL)
  • Tissue (100 mg)
  • Other (Please consult)
  • Analytical Technique:
  • GCxGC-TOFMS
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Download pdf

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)
  • Analytical Technique:
  • NMR
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Download PDF

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
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Download PDF

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
Download PDF

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).