Clinics & services

Genetic counselling

Title

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 form and either email it to genetics@austin.org.au or fax to 03 9496 4385. Please include copies of any relevant investigations or correspondence.

Links and downloads

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.

Please include oncologist's correspondence, imaging, histopathology, and endoscopy results

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.

Please include neurologist's, or specialist correspondence, pathology results, imaging, nerve conduction studies, and electromyography reports.

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

Please include cardiologist's correspondence, medications list and previous ECGs, Holter monitoring, Echocardiogram, Cardiac MRI, and/or other cardiac investigation reports.

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)

Please include nephrologist's correspondence, and renal function, urine ACR, and microscopy, renal tract imaging, and histopathology results (if biopsy done previously).

For FHH, please include serum and urine calcium, and creatinine levels.

For Gitelman and Bartter syndrome, please include renal function, serum and urine electrolytes.

For primary hyperoxaluria, please include urine oxalate level, renal function, renal stone analysis and/or imaging results

General genetic condition

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).

MODY - Endocrinologist's correspondence, medications list, BGL, OGTT, HBA1C, autoantibodies, and C peptide levels

Hearing and vision - assessment reports from audiologist and optometrist/ophthalmologist.

Intellectual disability/ASD - paediatrician's correspondence, and formal diagnostic assessment report for ID/ASD.