Cystic Kidney Disease Testing Checklist

Cystic kidney disease covers a genetically heterogeneous group of disorders — including ADPKD, ARPKD and syndromic ciliopathies — where progressive cystic change can lead to end-stage kidney disease. Which Medicare item applies depends on what else is going on: multiple renal cysts alone point to the cystic kidney disease super panel under MBS 73401, while cysts alongside glomerular haematuria or proteinuria point to the Kidneyome super panel under 73402, or a microarray first where a renal cysts and diabetes syndrome is suspected.

This checklist works through that decision and everything around it, across five phases: Pre-Test, Test Selection, Consent, Ordering a Test, and Post-Test Results.

Use this once imaging has established multiple renal cysts and you are deciding how to test, rather than whether to. If your patient presents with haematuria instead, the Alport and haematuria checklist is the one you want.

Typically used by:

• Nephrologists ordering genomic testing for cystic kidney disease
• Clinicians confirming which panel fits the patient's presentation
• Renal advanced trainees preparing a test request
• Kidney genetics MDT members supporting panel selection

Gathered across the Pre-Test phase, and most of it is required on the request form itself.

• A standard nephrology workup: renal imaging, urinalysis and eGFR, per Kidney Health Australia guidance
• Characterisation of proteinuria, haematuria pattern and extrarenal features
• A three-generation pedigree noting kidney disease, syndromic traits and consanguinity
• A phenotype summary drawing together examination, histopathology, radiology and MDT input
• The gene panel name and Medicare item number for your chosen test
• A signed consent form, scanned into the record before ordering