Carrier screening

Genetics of cystic fibrosis

9 out of 10 children born with cystic fibrosis are born into families with no known family history of the condition. To have a child with cystic fibrosis, both parents must be a carrier of the gene change that causes cystic fibrosis.

Cystic fibrosis carrier screening services are available to help you and your partner find out whether you are among the one million Australians who carry the gene change.

If both parents are carriers of the cystic fibrosis gene change, then with each pregnancy there is a 25% chance of that child having cystic fibrosis.

Being a cystic fibrosis carrier does not mean you have cystic fibrosis and carriers usually display no symptoms of cystic fibrosis.

What is cystic fibrosis carrier screening?

Cystic fibrosis carrier screening is a genetic test that will help to identify if you have changes to the cystic fibrosis gene. The test involves providing a blood or saliva sample and requires a referral from your GP, obstetrician or gynaecologist. Other family members can choose to be tested so they are aware of their cystic fibrosis carrier status if they are planning to have children.

 There are around 2 000 gene changes that cause cystic fibrosis and a typical cystic fibrosis screening will identify the most common cystic fibrosis gene changes in Australia. However, there is still a small risk that you may be a carrier of a rare cystic fibrosis gene change.

If you have a family history of cystic fibrosis, it is important to tell your GP, obstetrician or gynaecologist before providing your sample for screening. This will ensure that you are being tested for the most common cystic fibrosis gene changes as well as the specific gene change relevant to your family. 

Cystic fibrosis carrier screening is only available to those 18 years and over and is the only way to find out if you are a carrier of the cystic fibrosis gene change. The test can be ordered prior to pregnancy or early in a pregnancy. 

Our Carrier Screening Information Card can be found here.


From 1 November 2023, cystic fibrosis will be included in the list of chronic illness eligible for the Medicare genetic carrier screening rebate.
Under the Federal Government program, testing of a patient who is pregnant, or planning pregnancy to identify carrier status and reproductive risk of cystic fibrosis, will have the cost covered by Medicare. Subsequently, if this patient is found to be a carrier, their reproductive partner can also receive testing covered by Medicare, to determine the couple’s reproductive risk of cystic fibrosis. There is a one test per lifetime limit associated with this testing. The Medicare Item numbers for these tests are 73451 and 73452.
To get a carrier screening test, ask your GP, obstetrician, IVF specialist or gynaecologist to give you a referral for your carrier screening test. This can be completed either through a public health or private health route.


Public Health Route

In Queensland, genetic services are provided by Genetic Health Queensland based at the Royal Brisbane & Women’s Hospital, Brisbane.

Patients and their families are referred by their specialists or general practitioners where it is thought that there is a genetic component to their condition, or a family history of such a disorder.

Genetic Health Queensland provides an outreach service, so people may be able to access genetic counselling in a nearby town. Patients should contact the service for more details.


Phone: 07 3636 1686


The Public Health Route process

  1. Obtain a referral from your GP (or Specialist) to Genetic Health Queensland (GHQ). See attached GHQ Referral Form

A referral is required to see a geneticist.

  1. Then you will call GHQ to make an appointment. Explain to them when making the appointment that you have family history with cystic fibrosis.
  1. GHQ offer a free referral and counselling service for genetic testing.

You may need to wait 6-12 months to get in to see them, and perhaps a little longer to get the results.

Private Health Route

The Private Health Route process

  1. Obtain a referral from your GP (or Specialist) to a geneticist. Sonic Genetics, Genomic Diagnositics and VCGS are some options to receive this testing.

A referral is required to see a geneticist.

  1. Contact the geneticist to make an appointment.

You may want to explain to them when making the appointment that you have family history with cystic fibrosis, though your doctor’s referral should state the reason for the referral.


  1. Pathology Centres (e.g. Sullivan & Nicolaides and QML) charge a fee for the blood testing, some of which you may be able to claim back from Medicare. You will need to ask your GP or contact Medicare directly to learn if you are eligible for a rebate.

Cystic Fibrosis Queensland’s position on carrier screening

Cystic Fibrosis Queensland encourages people to make an informed choice about knowing their cystic fibrosis carrier status as early as possible. The earlier carrier status is known, the longer carriers have to make a thorough, informed and considered choice about their reproductive options including, but not limited to: understanding the impact of having a child with cystic fibrosis; understanding the risks of having a child with cystic fibrosis; and exploring IVF options.

Cystic Fibrosis Queensland encourages people interested in understanding their risks of being a carrier for cystic fibrosis to consult a genetic counsellor and supports efforts to make carrier screening accessible for anyone who is interested in learning about their cystic fibrosis carrier status. This includes raising awareness of cystic fibrosis, raising awareness of carrier screening services and addressing other potential barriers to access and informed choice (e.g. cost of screening).