New to Genomic Testing in Nephrology

Genomic testing can identify a monogenic cause of kidney disease, but for a first-time orderer the hard part is the path from clinical suspicion to a funded test. Medicare covers several routes — the Alport gene panel under MBS item 73298, the Kidneyome super panel under 73402, and the cystic kidney disease super panel under 73401 — with re-analysis available under 73403 and targeted testing of first-degree relatives under 73404.

This guided pathway walks you through each stage: clinical assessment and a three-generation family history, deciding whether your patient suits mainstream nephrology testing or needs Kidney Genetics MDT support, selecting a panel and NATA-accredited laboratory, obtaining informed consent, arranging collection, and interpreting the report. It branches on your patient's presentation, so the guidance stays relevant to your case.

This pathway assumes no prior genomics training. It is written for clinicians ordering genomic tests in a mainstream nephrology clinic, and for anyone weighing up whether a case can be managed in clinic or needs specialist input first.

Typically used by:

• Nephrologists initiating genomic testing for the first time
• Renal advanced trainees and registrars building familiarity with the pathway
• Clinicians deciding between mainstream testing and Kidney Genetics MDT support
• Genetic counsellors and MDT members supporting nephrology referrals

You can start without all of this and gather the rest as you go, but having it on hand makes the pathway faster.

• Standard workup results: kidney imaging, urinalysis, eGFR, and characterisation of proteinuria and haematuria
• A three-generation family history, documented as a pedigree
• Any prior genetic testing reports, including results from family members
• Histopathology and relevant biochemistry, where available
• Your chosen laboratory's consent form and test request form
• The patient's Medicare number