Our Tests

CFTR Mutation Panel (Cystic Fibrosis and CBAVD)

Also known as: Cystic Fibrosis, CBAVD

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Purpose

Inherited mutations in the cystic fibrosis gene (CFTR) can cause no symptoms (unaffected carrier), severe lung and pancreatic disorders (cystic fibrosis, CF), and other clinical outcomes (male infertility, bronchiectasis, or pancreatitis) depending on the number and type of CFTR mutations. About 1 in 25 people with European ancestry are CF carriers, with generally a a lower risk in other ethnic groups.

This test detects common CFTR mutations which contribute to 85% of CFTR-related diagnoses in Australia. The test has implications for individuals and their family members.

Clinical Utility

A normal test result indicates that the person is unlikely to be a carrier or to have a CFTR-related disorder, but this possibility cannot be excluded.

The presence of one mutation indicates that the person is a carrier and may be at increased risk of having an affected child.

The presence of two mutations indicates that the person is likely to develop a CFTR-related disorder.

This is an assay for heritable mutations. It may raise issues of ethics or consent that are different from most other investigations ordered in the routine care of a patient. The interpretation of the result may also be dependent on the family history and the interpretation of other studies.

Genes

CFTR

Test Method

Analysis of the CFTR gene for 50 common mutations (including the 5T variant).

Test Ordering

This test can be requested by any medical practitioner.

4 mL blood in EDTA (separate tube required). Specimens may be collected by the requesting practitioner or at any Sonic Healthcare pathology collection centre.

To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.

We also recommend that the patient or another adult check the labelling of request forms and sample tubes.

Special Instructions

Please note the presence or absence of family history of cystic fibrosis on the referral form. If there is a family history of CF, state the specific CFTR gene mutation or “unknown”. Please include a statement about patient’s ethnicity, if known, as this may affect the pre-test probability of there being a detectable mutation.

Price

$310

This test is also available as a part of a Preconception Carrier Screening panel (CF, SMA and Fragile X) for $400.

Medicare Rebate

This test is not rebated by Medicare. The laboratory assumes that the patient or client has provided informed financial consent for the test.

Turnaround Time

10 working days.