Genetic carrier screening tests adults to assess their chance of having a child with an inherited single gene condition. This screening test is ideally performed prior to pregnancy so that individuals/couples with an increased change of having an affected child have access to all of their available reproductive options.
In 2019, the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) recommended all individuals planning a pregnancy, or in early pregnancy should consider genetic carrier screening.
That’s why at Repromed, we have a simple Genetic Carrier Screening Test which allows you to choose between a three gene panel or an expanded 400+ gene panel. This test is available to everyone. You do not need to be a fertility or IVF patient to access Repromed’s Genetic Carrier Screening Test. The saliva test can be completed in the comfort of your own home, or you can choose a saliva or blood test by visiting our Dulwich or Darwin clinics.
Take control of your reproductive health with Genetic Carrier Screening
If you want to have a baby one day, Genetic Carrier Screening will provide you with the information you need to make informed choices about your reproductive health.
Genetic Carrier Screening will help you understand your chances of having a baby with single gene conditions, including cystic fibrosis, spinal muscular atrophy and Fragile X syndrome.
Why you should consider Genetic Carrier Screening
- To understand you and your partner’s combined genetic information, so you can make informed decisions about your options for conceiving.
- No needles or hospitals are required – it’s an easy saliva test you can do at home.
- Our expert genetic counselling team and fertility specialists are on hand to support you and provide you with personalised advice about your options.
- About 1 in 30 reproductive couples who have expanded genetic carrier screening will find out they have an increased chance of having a child with a single gene condition.
Which panel is right for me?
There are two options for genetic carrier screening panels:
- The three gene panel tests for 3 conditions: cystic fibrosis, fragile X syndrome and spinal muscular atrophy. Around 1 in 200 couples screen positive.
- The expanded panel tests for 410 conditions, including the 3 conditions above) and other common conditions such as thalassaemia and Duchenne muscular dystrophy (DMD). The full list of conditions screened for is available to view here. Collectively, around 1 in 30 reproductive couples screen positive.
Medicare has recently introduced a rebate for three gene genetic carrier screening.
We strongly recommend that patients consider the expanded panel, as it offers significant additional information and insight about potential conditions that may be passed onto children.
- The three gene carrier screening does not test for other common conditions. Although cystic fibrosis, spinal muscular atrophy and Fragile X syndrome are relatively common, they are much less common than the hundreds of conditions screened by expanded carrier screening when considered as a group.
- Expanded carrier screening is a pan-ethnic test which makes it more inclusive and relevant to people of all ethnicities. It screens for hundreds of serious genetic conditions that can significantly affect the health of a future child. Many carrier screening platforms are based on individuals of Caucasian ancestry. We have chosen a test that is relevant to all ethnicities.
| Genetic Carrier Screening Options | Three Gene | Expanded |
|---|---|---|
| Conditions included in screen | 3 | 400+ |
| Patient out of pocket cost (for Medicare eligible individuals) | N/A (bulk billed) | $695/individual $990/couple |
| Number of couples who screen positive | Approx. 1 in 200 | Approx. 1 in 30 |
| At-home saliva or in-clinic blood test options | ✓ | ✓ |
| Support from an in-house, qualified Genetic Counsellor | ✓ | ✓ |
| Support from reproductive experts in the event of a high-risk result | ✓ | ✓ |
| Tests for top 3 conditions among Caucasian Australians | ✓ | ✓ |
| Tests for top 10 conditions among Caucasian Australians | ✓ | |
| Tests for top 3 conditions among other ethnic groups | ✓ | |
| Customised panels possible where required (e.g., for donor matching) | ✓ |
What conditions are screened for?
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.(2)
For the full list of conditions that the expanded test screens for, please click here.
Buy your test and we will do the rest
1. Buy your test
Simply order your test online and we will walk you through the process and what to expect. You will have the option of using our extensive pathology collection network or having tests delivered to you.
2. Receive your test and provide a sample
The test will arrive in the mail, simply follow the instructions to provide a saliva swab. You can return your test using the prepaid envelope or drop it in at one of our clinics.
3. Receive your results
Our genetic counselling team will be in touch with your results. The process usually takes about six weeks. Most people will be reassured, but about 1 in 30 reproductive couples who have expanded carrier screening will find out they have an increased chance of having a baby with a single gene condition.
Next steps
If you and your partner or donor are found to be carriers of a condition that might be passed to your children, our genetic counselling team will talk you through your options and arrange a follow up with one of our specialists. These include testing in a pregnancy (prenatal diagnosis), testing embryos before transfer (preimplantation genetic testing) and other reproductive options.
What’s the cost?
Repromed’s Genetic Carrier Screening Test costs vary depending on which panel you are ordering and whether you are ordering an individual or couple test.
The fee includes:
- The test itself.
- Expert analysis of your sample by leading genetic scientists.
- Results interpretation and support from our genetic counselling team.
Three gene carrier screening is eligible for the Medicare rebate. To access this rebate, you will be required to enter your Medicare number and upload a photo or scanned copy of a referral from your GP.
A note for patients wanting to access the expanded panel:
It is recommended that couples (or patients using a known donor) buy two tests at the discounted rate of $990 rather than two individual tests. The individual test is customised for individuals who require more information and counselling with comparison with a donor profile or a previous result.
| Three Gene Panel | Expanded Panel (Recommended Model of Care) | |
|---|---|---|
| Individual (1 test)
Bulk billed (no out-of-pocket) ✓ 1 saliva testing kit Available for female patients with Medicare. |
Individual (1 test)
$695.00 (OOP) ✓ 1 saliva testing kit Recommended for those individuals using international or clinic-recruited donor gametes. |
Couple (2 tests)
$990.00 (OOP) ✓ 2 saliva testing kits Recommended for couples considering starting a family, or for those using a known donor. |
“Information on carrier screening should be offered to all people planning a pregnancy or in the first trimester of pregnancy.”
– Royal Australian College of Obstetricians and Gynaecologists
12 Common Questions
Not sure yet that genetic carrier screening is right for you? Check out common questions to learn more.
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References
1. Berbic M, Hesson L, Clarke J, et al, (2022) Reproductive carrier screening (RCS) to identify Australian couples at risk of having children with autosomal recessive and X-linked conditions, RANZCOG Annual Scientific Meeting, October 2022.
2. RANZCOG. Genetic carrier screening C-Obs. March 2019.