Applications

1449 – Genetic testing for Alport syndrome

Find out about the service or technology in this application and the medical condition it addresses. You can also view the application documents, the deadlines for providing consultation input and the outcome of the application when the MSAC process is complete.

  • Status Complete
  • Type New application
  • Pre-PASC consultation -
  • Pre-MSAC consultation -
  • Outcome Supported

Application details

Reason for application

New MBS item.

Service or technology in this application

Genetic 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.

Type: Investigative

Medical condition this application addresses

Alport 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.

Meetings to consider this application

  • PASC meeting: 8 December 2016
  • ESC meeting: 8 - 9 February 2018
  • MSAC meeting: 28 - 29 March 2018