Test information - 2018

Please note:

Test information listed below is only valid up until 31 December 2018.

To view the 2019 test information, please click here.


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.

Scope of tests

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Scope of tests and tarriff list - 2018
(PDF, 323K)

Full metabolic Evaluation

Full Metabolic Evaluation - Urine
(PDF, 221K)
Full Metabolic Evaluation - Urine & Serum
(PDF, 222K)
Comprehensive Full Metabolic Evaluation - Urine, Serum & Blood card
(PDF, 223K)


Single analysis

Screening analysis:

Mucopolysaccharide DMB Screening - Urine
(PDF, 225K)
Mucopolysaccharide 1D Electrophoresis - Urine
(PDF, 221K)
Thin Layer Chromatography of Oligosaccharides & Quantitative Fructose - Urine
(PDF, 222K)

Organic acids:

Quantitative Organic Acids - Urine
(PDF, 221K)
Qualitative Succinylacetone - Urine
(PDF, 216K)
Quantitative Free Fatty Acids - Serum
(PDF, 221K)
Quantitative Very Long Chain Fatty Acids - Serum
(PDF, 222K)
Quantitative Phytanic Acid - Serum
(PDF, 222K)
Quantitative Pristanic Acid - Serum
(PDF, 222K)

Carnitine profile:

Quantitative Carnitine Profile - Urine
(PDF, 221K)
Quantitative Carnitine Profile - Serum
(PDF, 222K)
Quantitative Carnitine Profile - Blood card
(PDF, 223K)

Amino acid profile:

Quantitative Amino Acids - Urine
(PDF, 300K)
Quantitative Amino Acids - Serum
(PDF, 300K)
Quantitative Amino Acids - Blood card
(PDF, 222K)

Single amino acids:

Quantitative Phenylalanine - Blood card
(PDF, 225K)
Quantitative Isotope Specific Cystine - Urine
(PDF, 227K)
Quantitative Isotope Specific Homocystine - Urine
(PDF, 226K)
Quantitative Glycine Specific Assay - CSF & Serum
(PDF, 231K)
Quantitative Citrulline - Blood card
(PDF, 301K)

Other tests:

CDG Screening - Blood card
(PDF, 221K)
CDG Identification and -typing - Serum and EDTA blood
(PDF, 224K)
Biotinidase Enzymatic Activity Determination - Blood card
(PDF, 223K)
Quantitative Trimethylamine - Urine
(PDF, 225K)
Quantitative Pipecolic Acid - Serum
(PDF, 222K)
Quantitative Galactose-1-Phosphate - Blood card
(PDF, 224K)
Quantitative Immunoreactive trypsinogen - Blood card
(PDF, 223K)

Quantitative Mitochondrial enzyme analysis - Muscle
(PDF, 223K)
For mitochondrial analysis, please also refer to the
muscle biopsy protocol
(PDF, 327K)

Lysosomal Screening - Blood card
(PDF, 224K)
For lysosomal screen, also complete an
Informed concent form
(PDF, 2.45M)


Bile acids, Polyamine, Bioamine - Contact our laboratory for more information
Mitochondrial activity determination & Enzymes of mitochondrial respiratory chain - Contact our laboratory for more information
Cell culture: Fibroblasts and other cultures - Contact our laboratory for more information
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