1216 - Cystic fibrosis transmembrane regulator (CFTR) testing

Page last updated: 11 October 2016

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

Not Applicable

Associated Documentation

Application Form


PICO Confirmation

Final Protocol (PDF 1369 KB)
Final Protocol (Word 607 KB)

Assessment Report

Assessment Report (PDF 2323 KB)
Assessment Report (Word 5859 KB)

Public Summary Document

Public Summary Document (PDF 1148 KB)
Public Summary Document (Word 540 KB)

Meetings for this Application


12 to 13 December 2013


11 to 12 June 2015


30 to 31 July 2015