Our Services

A clinical consultative service in Clinical Genetics and Genomics is provided, covering all aspects of Adult General and Specialty Genetics/Genomics as well as Familial Cancer.

Specialised services are readily available, including:

• Genetic counselling
• Genetic assessment and diagnosis
• A wide range of diagnostic genetic and genomic testing tailored to individual patients
• Clinical interpretation of genetic/genomic test reports
• Family cascade testing and/or predictive testing of relatives
• Patient management advice and reproductive risk counselling/management for established genetic diagnoses/rare diseases
• Familial cancer risk assessment and management advice, cancer surveillance recommendations
• Reproductive carrier screening: counselling, testing, and/or management of increased-risk results
• Medicare-rebated genetic testing, pre- and post-test counselling and management advice

Our areas of expertise, apart from General Genetics, include (alphabetical order, examples listed are not exclusive):

• Cardiovascular genetics – familial cardiomyopathies and/or arrhythmias, familial hypercholesterolaemia, aortopathies/other vascular dissection and aneurysmal disorder
• Endocrine genetics - monogenic diabetes, young-onset endocrine tumours such as pheochromocytoma, paraganglioma, and familial pituitary tumours
• Familial cancer
• Immunogenomics – primary immunodeficiency disorders, autoinflammatory disorders
• Inherited retinal disorders
• Neurogenetics – hereditary ataxia syndromes, young-onset Parkinson Disease, early-onset dementia
• Pharmacogenomics - a genetic test predicting a person’s response to many TGA/FDA-listed medications, guiding the initial choice and dosing of a prescription medication
• Renal genetics – cystic kidney diseases, Alport syndrome, tubulointerstitial kidney disease, hereditary nephritis

Our Specialists