Clinical geneticsClinical geneticsClinical genetics

Clinics & services

Genetic counselling

Genetics referrals

Refer your patient

We work together with individuals, their families and their doctors to provide them with diagnosis, counselling and management advice.

Find out more about our clinics.

The team is based at Austin Health and holds onsite general and subspecialty clinics at Austin Hospital and Northern Hospitals. Additionally, Familial Cancer Clinics are also held at Maroondah Hospital, Ballarat, Shepparton and Albury/Wodonga. Telehealth (video enabled) services are available and offered to patients where possible.

Medical practitioners are welcome to contact us to make an enquiry or referral. 

For written referrals, complete the referral template and either email it to or fax to 03 9496 4385. Please include copies of any relevant investigations or correspondence.

The referring doctor and the patient will receive a letter of acknowledgement once the referral has been received and triaged.

For Prenatal Genetic Clinics, fax your referral to Mercy Hospital for Women on 03 8458 4254.

Referral criteria

Familial cancer

Any individual with a relevant personal/family history of cancer which suggests they may have an inherited predisposition to cancer – national referral guidelines can be found at eviQ.

We can no longer accept referrals for unaffected women with an average or slightly above average risk of breast/ovarian cancer:

The iPrevent tool is a validated breast cancer risk assessment and risk management support tool that can help assess a woman’s breast cancer risk taking into account personal and family history risk factors. Visit iPrevent.

Familial neurological and muscle disorders

This may include individuals with a personal/family history of myotonic dystrophy, muscular dystrophy, ataxia, leukodystrophy, spinal muscular atrophy, dystonia, periodic paralysis, congenital myasthenic syndromes, hereditary neuropathy, and early onset dementia/parkinsonism.

Familial cardiac conditions

This may include individuals with a personal/family history of:

  • Idiopathic hypertrophic cardiomyopathy (HCM)
  • Long QT syndrome
  • Brugada syndrome
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC)
  • Left ventricular non-compaction (LVNC)
  • Dilated cardiomyopathy (DCM)
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT)
  • History of sudden unexplained death in a young relative

Familial renal conditions

This may include individuals with a personal/family history of:

  • Advanced kidney disease in young adults, otherwise not explained
  • Alport's disease
  • Atypical haemolytic uraemic syndrome (AHUS)
  • C3 glomerulopathies
  • Dense deposit disease (DDD)
  • Bartter syndrome
  • Fabry disease
  • Familial hypocalciuric hypercalcaemia (FHH)
  • Family history of kidney disease
  • Gitelman syndrome
  • Hereditary nephritis
  • Medullary cystic kidney disease (MCKD)
  • Polycystic kidney disease (ADPKD)
  • Primary hyperoxaluria (PH)
  • Thin basement membrane disease (TBMD)
  • Tubulointerstitial kidney disease (ADTKD)
  • Uromodulin kidney disease (UMOD)

Patients with a condition that could have a genetic basis

This may include undiagnosed intellectual or developmental disability, infants with birth malformations or dysmorphisms, skeletal and connective tissue disorders and suspected inherited disorders of the senses (hearing and vision).

Patients who already have a genetic or chromosomal diagnosis

We can provide genetic counselling, confirmatory testing where appropriate/feasible and appropriate screening recommendations.

Contact us

Clinical Genetics Service

Phone: 03 9496 3027

Fax: 03 9496 4385



Level 8, Harold Stokes Building
Austin Hospital   
145 Studley Rd
Heidelberg Victoria

View location maps