Alport syndrome
Overview
Alport syndrome is a genetic disorder which involves progressive loss of kidney function and may lead to severe hearing damage and eye abnormalities. This kidney related condition is caused by gene changes that significantly affect collagen in renal structures that play a vital role in filtering waste products from blood to create urine.
Test type
Exome sequencing
Panels tested
Turnaround time
Diagnostic: 3-4 months
Cascade: 10-12 weeks
Cost
Bulk billed for Medicare eligible patients.
See details below.
Relevant links
Notes
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.