Nephrology Genetics

Expert support for inherited and unexplained kidney conditions.

Rosalind Genetics provides genetic counselling and testing for individuals and families affected by kidney conditions with a possible genetic cause. Our service helps uncover the underlying cause of kidney problems, guides treatment decisions, and supports long-term care and family planning.

When should I consider nephrology genetic testing?

Some kidney conditions are caused by inherited gene changes. These conditions may affect how the kidneys function, develop, or respond to injury – and can run in families even when not everyone is affected in the same way.

You may benefit from genetic testing if:

  • You have a personal or family history of chronic kidney disease
  • You’ve been diagnosed with kidney disease
  • You have structural abnormalities of the kidney or urinary tract
  • You’ve had repeated episodes of blood or protein in the urine without a clear cause
  • You’ve been diagnosed with a known or suspected inherited condition (e.g. Alport syndrome, polycystic kidney disease)
  • You have a family member with a known genetic finding related to kidney health
  • You’re considering kidney donation or transplant and want to understand your genetic risk
  • With Medicare funding now available for von Hippel Lindau and Alport syndrome, your nephrologist may be recommending you undergo testing as a genetic diagnosis could help with management and treatment decisions.

What to expect

Every case is unique. We take the time to tailor your care to your situation.

1

Referral

Get a referral to Rosalind Genetics from your GP or specialist.

2

Consult

Speak to our genetic counselling team about your options in a telehealth consult online.

3

History

Review of your personal and family history, symptoms, and past test results.

4

Undergo testing

We’ll explain what it covers and what the possible results might mean.

5

Results

Receive your results with clear guidance and emotional support.

6

Next steps

Ongoing coordination with your nephrology team, if needed.

1. Get a referral

From your GP, obstetrician, or fertility specialist.

2. Consultation

Meet with one of our genetic counsellors (in person or via telehealth).

3. Family history

Discuss your family history and whether testing is appropriate.

4. Undertake testing

Undertake testing (if needed). We’ll explain what it covers and what results mean.

5. Results

Receive your results with clear guidance and emotional support.

6. Next steps

Plan your next steps with confidence, whatever the outcome.

What conditions do we assess?

We can assist with a wide range of inherited or suspected genetic kidney conditions, including:

  • Alport syndrome
  • Polycystic kidney disease (including autosomal dominant and recessive forms)
  • Tubulopathies (e.g. Gitelman or Bartter syndrome)
  • Congenital anomalies of the kidney and urinary tract (CAKUT)
  • Nephrotic syndrome (particularly steroid-resistant forms)
  • Cystic or glomerular disorders
  • Complement-related diseases (e.g. atypical HUS, C3 glomerulopathy)
  • Undiagnosed or atypical chronic kidney disease
  • Known familial gene mutations affecting kidney health

 

Even when a condition has already been diagnosed clinically, genetic testing may help clarify its cause, predict disease progression, or guide treatment choices – including suitability for transplant.

Medicare and costs

Many nephrology-related genetic tests are eligible for Medicare rebates, especially when there is a strong clinical indication or relevant family history.

We’ll explain all costs clearly upfront – you’ll never be pressured to proceed.

Why Choose Rosalind?

Our team includes clinical geneticists and genetic counsellors with experience in renal genetics. We work closely with nephrologists and kidney specialists across Australia to ensure collaborative care and clear communication.

We offer:

  • Personalised assessment for inherited kidney conditions
  • Clear explanations of genetic findings and what they mean
  • Support for family cascade testing and reproductive planning
  • Coordination with your treating team for ongoing care

 

Our goal is to give you clarity, and plan for what’s next.

Frequently Asked Questions

Do I need a referral?

Yes. You’ll need a referral from a GP or specialist to access our general genetics service.

In many cases, yes. Genetic testing can clarify the cause of disease, predict how it may progress, and inform medication choices or transplant decisions.

Yes. If there’s a clinical need or family history, testing can be offered to children with appropriate consent and support.

We can review previous test results and discuss whether further testing is necessary.

Results are usually available within 4 to 8 weeks, depending on the type of test. We’ll let you know what to expect at the time of consultation.

Reach out to us at gene@rosalindgenetics.com or call us on 1300 042 132.