Test Information 2019
Test information listed below is only valid up until 31 December 2019
To view test information of 2020 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.
- CDG Screening – Blood card
- CDG Identification and -typing – Serum and EDTA blood
- Biotinidase Enzymatic Activity Determination – Blood card
- Quantitative Trimethylamine – Urine
- Quantitative Pipecolic Acid – Serum
- Quantitative Galactose-1-Phosphate – Blood card
- Quantitative Immunoreactive trypsinogen – Blood card
- Quantitative Mitochondrial enzyme analysis – Muscle
- Lysosomal Screening – Blood card
- 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