Alport Syndrome & Haematuria Testing Checklist

Alport syndrome is an inherited disorder of the glomerular basement membrane caused by pathogenic variants in the COL4A3, COL4A4, or COL4A5 genes, presenting with persistent haematuria, progressive kidney disease, and extrarenal features including sensorineural hearing loss and ocular abnormalities. Genomic testing under MBS item 73298 covers targeted Alport panel testing for patients with clinical or family history features strongly suggestive of the condition.

This checklist provides a concise phase-by-phase reference covering eligibility confirmation, test selection, informed consent, sample submission, and result disclosure. Nephrologists who are new to the process are encouraged to use the Guided pathway instead.