Genetic Carrier Screening Test

The three gene panel screens for 3 conditions: Cystic fibrosis, Spinal muscular atrophy, and Fragile X syndrome.

In the expanded panel, we screen for over 400 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 30 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 400+ 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.

You can view the transcript below:

Anyone who is planning a pregnancy needs to know about genetic carrier screening. The idea of genetic carrier screening is that we look at your chance of having a child with a single gene condition.

The three most common single gene conditions in Australia are cystic fibrosis, spinal muscular atrophy, and fragile X syndrome.

But there are hundreds of different genetic conditions, and the majority of children born with a genetic condition are born into families with no previous history of the condition.

Single gene conditions occur when each reproductive parent is a carrier of a genetic change, which is passed on to their child, or when the woman is a carrier of a genetic change on the X chromosome, which is passed on to a male child.

About one in 30 reproductive couples who have genetic carrier screening will find out that they have an increased chance of having a child with a single gene condition.

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists recommends that all individuals planning a pregnancy consider genetic carrier screening.

Monash IVF now provides at-home genetic carrier screening, so you can easily access this information when you're planning a pregnancy, already pregnant, or having fertility treatment.

There is now a Medicare rebate available for three-gene genetic carrier screening, which screens for the most common conditions in the Caucasian Australian population: cystic fibrosis, spinal muscular atrophy, and fragile X syndrome.

We strongly recommend that patients consider expanded carrier screening because this screens for hundreds more conditions, which can be just as serious as the top three.

The genetic carrier screening kit can be purchased online at monashivf.com or reprimand.com.au. After purchasing your test, you'll receive an email from our genetic counseling team. They'll provide details about the carrier screening process.

If you have a family history of a specific genetic condition, please let us know so we can determine if additional testing is required. We will then mail you your at-home genetic carrier screening kit.

The genetic carrier screening kit is really easy to use. Simply follow the instructions, providing a saliva swab. Swab the inside of your mouth between the bottom jawline and inner cheek where the saliva pools.

Make sure you swab 10 times on the right side and 10 times on the left side to collect enough saliva. Then unscrew the swab from the tube and place it into the liquid, ensuring the lid is tightly closed.

Don't forget to gently invert the tube 15 times to mix and label the tube with your full name, date of birth, and collection date.

Depending on where you are in your fertility journey, we may recommend a blood test instead of a saliva swab. This blood test can be done at a broad range of blood collection facilities around Australia.

The testing process usually takes about four to six weeks. When your results are ready, our team will be in touch with you.

It's important to note that most people will be a carrier of at least one single gene condition. Finding out that you're a carrier usually has no implications for your own health. However, if you are a carrier of certain single gene conditions, this test may reveal information about your own health.

Discovering that you're a carrier may also have implications for your family members. If you're one of the one in 30 reproductive couples with an increased chance of having a child with a single gene condition, our experienced genetic counseling team will discuss your reproductive options and help you decide what may be best for your situation.

The options available include prenatal testing, which means seeing an ultrasound specialist at one of our clinics and having testing during pregnancy, or testing after the birth of a child. Other people may choose to have IVF.

IVF allows you to use either donor eggs or sperm, or you can consider genetic testing of embryos. The team is here to support you, whichever option you choose. There are many different reproductive options.

Genetic carrier screening can be done at any time, but ideally before you're pregnant. This gives you the maximum number of options to discuss with your doctor.

If you're already pregnant and considering carrier screening, it's still available and can be done alongside other tests such as non-invasive prenatal testing.

Monash IVF Group has been providing leading reproductive care for over 50 years. This means our expertise extends beyond genetics; we offer holistic, integrated care from genetic testing to counseling, all the way through to fertility treatment options and ultrasound services.

So no matter the outcome of your screening, we're with you every step of the way.