Whilst the Medicare item number specifically mentions testing for 3 genes, COL4A3, COL4A4, COL4A5, VCGS offers the option to test for the 5 genes contained in the PanelApp Australia ‘Haematuria Alport’ gene panel.
This is a consensus panel used by the KidGen Collaborative, VCGS and The Royal Melbourne Hospital. This panel has been compared with the Genomics England PanelApp Haematuria panel; no discrepancies were identified.
VCGS offers characterisation of germline gene variants for Alport syndrome in one of the following pre-curated and evidence-based panels (all with no out-of-pocket cost to the patient where Medicare criteria are met):
- Alport syndrome (3 genes only): COL4A3, COL4A4, COL4A5; or
- Alport syndrome (PanelApp 5 genes): COL4A1, COL4A3, COL4A4, COL4A5, MYH9.