Central Clinical School

Molecular Genetics – Royal Prince Alfred Hospital

  • Molecular basis of complex genetic disease - research in prosopagnosia, motor neuron disease
  • Familial Hypercholesterolemia (LDL Receptor and ApoB) - new model of care incorporating clinical and molecular DNA testing
  • Comprehensive porphyria DNA testing service - in collaboration with Department of Clinical Chemistry RPAH
  • Personalised cancer care through somatic cell DNA testing - melanoma, lung and colon cancer, in collaboration with Department of Anatomical Pathology RPAH
  • Pharmacogenetics and pharmacogenomics DNA testing
  • Medical bioinformatics
  • Provision of DNA genetic testing service - haemoglobinopathies, Huntington disease, haemochromatosis
  • Applications of Next Generation DNA sequencing (NGS) in clinical service delivery

Clinical Genetics

  • General paediatric and adult genetics
  • Reproductive and prenatal genetics
  • Familial Hypercholesterolemia