Summary

Cystic kidney disease encompasses a genetically heterogeneous group of disorders — including ADPKD, ARPKD, and syndromic ciliopathies — characterised by progressive cystic changes that can lead to end-stage kidney disease. Genomic testing under MBS item 73401 covers whole exome or genome sequencing using the Cystic Kidney Disease super panel for patients with a suspected monogenic condition. This checklist provides a concise phase-by-phase reference covering pre-consultation workup, test selection, informed consent, sample submission, and result disclosure. Nephrologists who are new to the process are encouraged to use the Guided pathway instead.