1216.1 - Cystic fibrosis transmembrane regulator (CFTR) testing

Page last updated: 03 August 2017

Application Detail



Description of Medical Service

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.

Description of Medical Condition

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.

Reason for Application

New MBS item

Medical Service Type


Previous Application Number


Associated Documentation

Application Form


PICO Confirmation


Assessment Report


Public Summary Document

Public Summary Document (PDF 224 KB)
Public Summary Document (Word 85 KB)

Meetings for this Application




7 - 8 February 2017


6 - 7 April 2017