A nurse treats a patient in the Emergency DepartmentA nurse treats a patient in the Emergency DepartmentA nurse treats a patient in the Emergency Department

Clinics & services

Kidney care & dialysis

Genetic kidney diseases

We help diagnose genetic kidney diseases using evidence-based, modern clinical genomics.

About us

The Renal Genetics Service aims to facilitate the diagnosis of genetic kidney diseases using evidence-based, modern clinical genomics.

We are a collaboration between the departments of Nephrology and Clinical Genetics.

Referred patients are reviewed by a multi-disciplinary team comprising a nephrologist, clinical geneticist and genetic counsellors.

We collaborate with KidGen, the Melbourne Genomics Health Alliance and the Australian Genomics Health Alliance.

Our services

Genetic diagnosis

  • Assessment regarding suitability for genetic testing
  • Arrangement of appropriate genetic testing, if indicated
  • Arrangement of other appropriate testing for genetic conditions
  • Interpretation of genetic testing results
  • Genetic counselling
  • Testing of affected family members or family members at risk

Testing platforms

  • Sanger sequencing
  • Chromosomal microarray
  • Whole exome sequencing
  • Whole genome sequencing
  • Panel next-generation sequencing
  • Specialised molecular methods for specific conditions
  • Multidisciplinary review of kidney biopsy


  • 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
  • Early onset kidney disease, otherwise not explained
  • 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)


Referrals should be addressed to A/Prof John Whitlam.

Please include with referrals any investigations performed to date, as well as other relevant correspondence.

Our team

A/Prof John Whitlam

Dr Simon Bodek
Clinical Geneticist

Anna Leaver
Genetic Counsellor

Giulia Valente
Genetic Counsellor

Contact us

Medical practitioners are invited to contact us with any enquiries.

Renal Genetics

Ph: 03 9496 3027

Fax: 03 9496 4385

Email: genetics@austin.org.au

People concerned about a genetic risk in their family are welcome to contact our genetic counsellors on 03 9496 3027.