Applications

1216.1 – 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 Re-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 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.

Previous applications

1216 – Cystic fibrosis transmembrane regulator (CFTR) testing

Application documents

Public summary document

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Meetings to consider this application

  • PASC meeting: -
  • ESC meeting: 7 - 8 February 2017
  • MSAC meeting: 6 - 7 April 2017