Clinical Genetics and Genomics Service

Clinical service overview

We provide multidisciplinary and comprehensive services that include genetic assessment, genetic counselling, genetic/genomic testing and advice about management of health conditions arising from a genetic diagnosis.

Consultations are offered in person or via telehealth.

The service offers a number of subspeciality clinics such as:

• Adult Genetics Clinic
• Cardiac Genetics Clinic
• Endocrine Genetics Clinic
• Familial Cancer Clinic
• Gastrointestinal High Risk Management Clinic
• Inherited Haematology Genetics Clinic
• Immunogenetics Clinic
• Neurogenetics Clinic
• Renal Genetics Clinic
• Respiratory Genetics Clinic

Exclusion criteria

CGGS are unable to provide services to:

• Children or adolescents <16yrs of age
• Individuals with a personal or family history of a health condition where a monogenic cause/s has not been established
• Individuals with a personal or family history of a health condition explained by confirmed/likely somatically acquired pathogenic variants
• Individuals who are pregnant or require prenatal genetic counselling and care
• Individuals seeking or considering ‘direct to consumer’ genetic testing or paternity testing

Note: Referrals for Ehlers-Danlos syndrome, type 3 / hypermobility / joint laxity will not be accepted unless there are additional and proven clinical features suggestive of a specific connective tissue disorders. Additional features may include; hernias, spontaneous internal organ rupture/collapse, aortic/arterial aneurysm or dissection, arterial tortuosity, cleft palate, craniosynostosis, ectopia lentis, easy fractures, dysmorphic features that may indicate conditions such as Marfan syndrome, vascular EDS, Loeys Dietz syndrome, TAAD, or arterial tortuosity syndrome.