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National Referral Laboratory for Lysosomal, Peroxisomal and Other Related Disorders

Nuclear Medicine 2

The National Referral Laboratory provides a national and international diagnostic service for a range of inherited metabolic disorders, focussing predominantly on the lysosomal storage disorders and peroxisomal disorders.

The National Referral Laboratory provides a national and international diagnostic service for a range of inherited metabolic disorders, focusing 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. 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.

How to access this service


Genetics and Molecular Pathology, SA Pathology, Level 4, Rogerson Building


For tests and charges, please refer to the SA Pathology Collection Guide or contact the laboratory directly on:


(08) 8161 7294



Laboratory Head

  • Professor Maria Fuller

Administrative Officer

  • Nicole Cadzow

Scientific Leads

  • Sharon Chin (enzymology)
  • Dr Jennifer Saville (substrates)

Scientific Staff

  • Dr Alexis Gerassimou
  • Dr Jasmina Markulic
  • Belinda McDermott
  • Wan Ling Ng

Technical Supervisor

  • Kerry McDonald

Technical Staff

  • Elaine Alexander
  • Aliesha D’Hyon
  • Beverley Fong
  • Nicholas Schnell

Post-graduate Students

  • Ashleigh Lake (PhD)
  • Kleopatra Pericleous (PhD)
  • Zhegeng Zhang (Masters)
  • Sharmin Afroj (Honours)

Genetic Pathologist

  • Dr Carol Siu