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Test information listed below is valid as from 1 January 2022 to 31 December 2022
To view test information of 2021 please click here
IMPORTANT:
Our methods are based on the creatinine values of urine samples received. Therefore urine creatinine, uric acid and labstix analyses are done standard on ALL URINE SAMPLES received.
The following is a list of all the available tests done at the Potchefstroom Laboratory for Inborn Errors of Metabolism. To open the test information, click on the links below. If you have any questions, or for more information, please contact our laboratory.
2022 Scope of Tests and tariffs-CHM.NWU
- Full Metabolic Screen
Full Metabolic Evaluation – Urine
- Single Analysis
Glycosaminoglycan (GAGs/MPS DMB) Analysis
Thin Layer Chromatography (TLC) of Oligosaccharides & Quantitative Fructose – Urine
(CDG)‐ Serum AND Dried blood spot (DBS)
Biotinidase Enzymatic Activity Determination – Blood card [DBS]
Quantitative Galactose-1-Phosphate – Blood card [DBS]
Quantitative Immunoreactive Trypsinogen – Blood card [DBS]
- Organic Acid Profiling
Quantitative Organic Acids – Urine
Quantitative Very Long Chain Fatty Acids, Phytanic Acid, Pristanic Acid – Serum
Quantitative Pipecolic Acid – Serum
- Acylcarnitine Profiling
Protocol QUANT Acylcarnitine urine
Protocol QUANT Acylcarnitine serum
Protocol QUANT Acylcarnitine blood card
- Amino Acid Profiling
Quantitative Amino Acids – Urine
Quantitative Amino Acids – Serum
Quantitative Amino Acids – Blood card [DBS]
- Single Amino Acids
Quantitative Phenylalanine (PKU) – Blood card [DBS]
Quantitative Isotope Specific Cystine – Urine
Quantitative Glycine Specific Assay – CSF & Serum
- Specialised Tests
Quantitative Trimethylamine – Urine & EDTA
Mitochondrial enzyme analysis [PRIVATE] – Muscle
LSD Project Sanofi Genzyme
2022-NBS.screening.test.INT-CHM-NWU-Potchefstroom
2022-NBS.screening.test-CHM-NWU-Potchefstroom
- Bile acids, Polyamine, Bioamine – Contact our laboratory for more information