Clinical genetics and genomics referral

Familial cancer syndromes (e.g., hereditary breast and ovarian cancer, Lynch syndrome)

Neurological and muscle disorders (e.g., Huntington’s disease, muscular dystrophy, epilepsies)

Cardiac conditions with suspected genetic basis (e.g., long QT syndrome, cardiomyopathies)

Familial aortopathies and connective tissue disorders (e.g., Marfan’s syndrome, Loeys-Dietz syndrome)

Renal conditions suggestion of genetic aetiology (e.g., polycystic kidney disease)

Immune or autoinflammatory disorders (e.g. Familial Mediterranean fever, primary immunodeficiencies)

Inherited pulmonary conditions (e.g., Cystic Fibrosis)

Intellectual disability with suspected genetic cause

Dysmorphic features or congenital anomalies suggestive of a genetic syndrome

Patients with an established genetic or chromosomal diagnosis requiring further evaluation

Predictive testing for individuals with a known pathogenic variant in a family member

Inherited haematological conditions

Dysmorphic feature of congenital anomalies suggestive of a genetic syndrome

Predictive testing for individuals with a known pathogenic variant in a family member Inquiries about referral criteria or specific cases, please contact CGGS and ask to speak to the genetic counsellor on duty

Initial primary-care work-up complete (history, examination, baseline investigations per Alfred guideline)

Symptoms persist or progress despite primary-care management