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The Women's and Children's Hospital is located on the traditional lands for the Kaurna people, and we respect their spiritual relationship with their Country. We also acknowledge that the Kaurna people are the custodians of the Adelaide region, and that their cultural and heritage beliefs are still as important to the living Kaurna people today.

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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)
  • Alexis Gerassimou (molecular)
  • Dr Jennifer Saville (substrates)

Technical supervisor

  • Kerry McDonald

Scientific / technical staff

  • Elaine Alexander
  • Alexandra Contibas
  • Bev Fong
  • Qaisar Naveed
  • Belinda McDermott
  • Wan Ling Ng
  • Ellie Wu

Post-doctoral scientists

  • Dr Ainslie Derrick-Roberts
  • Dr Nathan Rout-Pitt
  • Dr Jennifer Saville

Post-graduate students

  • Ashleigh Lake and Mau Toan Nguyen (Honours)
  • Anindita Debnath and Chengwei Shao (Masters)
  • Kleopatra Pericleous (PhD)

Genetic pathologist

  • Dr Richard McKay