Applications

1216 – Cystic fibrosis transmembrane regulator (CFTR) testing

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 Deferred

Application details

Reason for application

New MBS item.

Service or technology in this application

Genetic testing for hereditary mutations in the CFTR gene involving an individual clinically suspected to have one of the CFTR-related disorders or prenatal diagnosis of pregnancies at high risk of cystic fibrosis.

Type: Investigative

Medical condition this application addresses

Mutations in CFTR are associated with a spectrum of clinical phenotypes known collectively as the CFTR-related disorders. These include classical cystic fibrosis, bronchiectasis, chronic pancreatitis and infertility in males associated with congenital absence of the vas deferens, amongst others.

Meetings to consider this application

  • PASC meeting: 12 to 13 December 2013
  • ESC meeting: 11 to 12 June 2015
  • MSAC meeting: 30 to 31 July 2015