National Referral Laboratory for Lysosomal, Peroxisomal and Other Related Disorders
Genetics and Molecular Pathology, SA Pathology (located at level 4 Rogerson Building, Women's and Children's Hospital)
The National Referral Laboratory provides a national and international diagnostic service for a range of inherited metabolic disorders, focussing predominantly on the lysosomal disorders.
Diagnostic testing platforms include molecular testing to identify genetic variants in causative genes, enzymology to measure the deficiency in the gene product and metabolites to quantify the amount of substrate stored for over 70 different inherited metabolic disorders.Â In addition to diagnosis, the laboratory offers prenatal testing (biochemical and molecular), cascade testing for family members and monitoring of therapies for some treatable lysosomal disorders. The laboratory also performs cystic fibrosis genetic testing for families.
The laboratory has a research arm, the Translational Unit, interested in understanding more about the pathogenic cascades in lysosomal disorders, uncovering novel sites for therapeutic intervention and developing innovative testing algorithms to improve the efficiency of diagnosis for lysosomal disorders. To this end, the laboratory has contributed over 100 articles to the scientific and medical literature. This Unit provides a forum for the translation of new laboratory tests into routine clinical use and supports a number of post-graduate students.
For tests and charges, please refer to the SA Pathology Collection Guide or contact the laboratory directly on:
last modified: 03 May 2021