Biochemical & Community Genetics

SA Pathology (at Women's and Children's Hospital)

The Department of Biochemical & Community Genetics consists of a number of laboratories and units offering biochemical genetics and community genetics services to the population of South Australia and beyond. The Department is housed at the Women's and Children's Hospital and exists within the Directorate of Molecular Pathology, SA Pathology.

Note that these laboratories were previously within the Department of Chemical Pathology, which then became part of the Department of Genetic Medicine, at the Women's and Children's Hospital.

To access the individual laboratories, please click on the links below.

Antenatal screening (SAMSAS)
Screening for Down syndrome, neural tube defects and pregnancy pathologies.

National Referral Laboratory
Provides an Australasian diagnostic service for lysosomal, peroxisomal and related genetic disorders.

Metabolic Physician & Clinics
Provides a clinical service for children with proven or suspected inborn errors of metabolism.

Metabolic Laboratory
Offers a comprehensive service for the diagnosis and monitoring of a range of inborn errors of metabolism. Primary screens include amino acids, organic acids, mucopolysaccharides and very long chain fatty acids.

Neonatal Screening
Provides a comprehensive newborn screening service, utilising tandem mass spectrometry, to detect and treat more than 30 metabolic disorders before the appearance of symptoms.

Toxicology & Special Biochemistry
Provides biochemical analyses of trace metals, vitamins, specific drugs and metabolites, porphyrins and triagenic amines, specialised obstetric and paediatric support services as well as an analytical toxicology service.

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