Inherited Metabolic Disease Laboratory - C21, NGSH
Inherited Metabolic Disease Molecular Laboratory - C21, Groote Schuur Hospital
The Inherited Metabolic Disease molecular section provides a genetic diagnostic service for a wide range of inborn errors of metabolism diseases which broadly fall into the following groups:
Mitochondrial disorders, homocysteine metabolism, ketone body utilisation disorders, purine and pyrimidine metabolism, amino acidurias, urea cycle defects, and others. The lab often responds on individual cases based on a combination of clinical and biochemical findings and works closely with the IMD biochemistry lab at Red Cross Hospital and the NHLS Histology labs at RXH and GSH.
A full list of tests are provided in the IMD lab request form.
Contact us at:
Tel: +27-21-4044449 (lab)
Tel: =27-21-6501630 (Scientist)
email: Ms Surita Meldau