Description of Medical ServiceGenetic testing (targeted whole exome sequencing) to identify one mutation in the COL4A5 gene, or two mutations in the COL4A3 or COL4A4 genes to confirm the diagnosis of X-linked or autosomal recessive Alport syndrome respectively.
Description of Medical ConditionAlport syndrome is one of the commonest causes of inherited renal failure after polycystic kidney disease and reflux nephropathy.
All males with X-linked Alport syndrome develop end-stage renal failure by the age of 40, with 15 – 30% of females developing renal failure by 60 years of age. Those with the less common or recessive form of Alport syndrome (approximately 15%) have renal failure before 40 years of age.
There is no cure for Alport syndrome, however, studies have demonstrated that treatment with angiotensin converting enzyme inhibitors delay the onset of renal failure by up to 13 years if commenced early enough.
Reason for ApplicationNew MBS item
Medical Service TypeInvestigative
Previous Application NumberNot Applicable
Application FormApplication Form (PDF 389 KB)
Application Form (Word 1560 KB)
PICO ConfirmationPICO Confirmation (PDF 541 KB)
PICO Confirmation (Word 220 KB)
Public Summary DocumentPublic Summary Document (PDF 403 KB)
Public Summary Document (Word 170 KB)