Test Information 2020
Test information listed below is valid as from 1 January 2020 to 31 December 2020
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 [DBS]
- Quantitative Trimethylamine – Urine & EDTA
- Biotinidase Enzymatic Activity Determination – Blood card [DBS]
- Quantitative Galactose-1-Phosphate – Blood card [DBS]
- Mitochondrial enzyme analysis [PRIVATE] – Muscle
- Mitochondrial enzyme analysis [NHLS] – Muscle
- Quantitative Immunoreactive Trypsinogen – Blood card [DBS]
- Lysosomal (PLSD) Screening – Blood card [DBS]
- Pre-Natal metabolite analysis – Amniotic Fluid