Genetic Carrier Screening

The three gene panel screens for 3 conditions: Cystic fibrosis, Spinal muscular atrophy, and Fragile X syndrome PLUS an extra 13 X-Linked conditions.

In the expanded panel, we screen for 787 genetic conditions which have a wide range of health impacts in childhood. The most common conditions in the Australian population are those screened for in the three gene panel. However, there are many other common conditions that we recommend be screened for such as Thalassaemia, Duchenne muscular dystrophy, Haemophilia and Sickle Cell Disease. Collectively, around 1 in 50 reproductive couples screen positive when using the expanded test.⁽¹⁾ For these reproductive couples, there is approximately a 1 in 4 chance of having an affected child.⁽³⁾

The process usually takes about 6 weeks. Our genetic counselling team will be in touch with you as soon as your results are available.

As of 1 November 2023, there is a Medicare rebate of up to $400 available for three gene genetic carrier screening. However, Monash IVF continues to recommend the 787 gene expanded genetic carrier screening test because it screens for hundreds more conditions.

There is currently no private health insurance support available.

Genetic carrier screening is an important part of preparing for pregnancy. We also recommend taking a preconception multivitamin including folate and iodine, aiming for a healthy weight by diet and exercise, and speaking to your doctor about any medical conditions which might have an impact on pregnancy. If you need extra information about preconception health, feel free to contact our team at Monash IVF for a free chat.

Some people may find the process of genetic carrier screening daunting, but we have worked hard to make this as streamlined and stress-free as possible. Our genetic counselling team are on hand to talk to you about any concerns you may have, including a discussion of family history. The chance of finding information that is relevant to your own health is low.

In most cases, this will mean that there is a 1 in 4 or 25% chance of a pregnancy inheriting the condition which you have screened positive for.⁽³⁾ Our team will talk to you about your reproductive options including testing in pregnancy, testing embryos before transfer (preimplantation genetic testing) and other reproductive options.

If you are planning to use a known donor (someone you know personally), the couple test is recommended. This will help you to understand you and your donor’s combined genetic information, so you can make informed decisions about your options for conceiving. If you are planning to use a clinic-recruited donor or an international donor, the single test is recommended. Clinic-recruited or international donors have usually already been screened for single gene conditions.

Yes. It’s recommended that everyone have genetic carrier screening done regardless of existing conditions, because you, your partner or your donor may carry other conditions as well. Often, it is possible for us to screen for specific known conditions, so if you have a known condition please call our team on 1800 684 198 prior to ordering the test.

Yes. You will need to upload either a photo or a scanned copy of a referral from your GP to access genetic carrier screening. This is a requirement to access the Medicare rebate.