Genetic Carrier Screening Test
This test is available to everyone. You do not need to be an IVF patient to access Monash IVF’s genetic carrier screening. The saliva test can be completed in the comfort of your own home, or you can choose a saliva or blood test in any of our pathology collection centres. For a full list of our pathology centres, click here.
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
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 400+ 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 OOP (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 and genetic experts in the event of a high-risk result | ✓ | ✓ |
Test for top 3 conditions among Caucasian Australians | ✓ | ✓ |
Test for top 10 conditions among Caucasian Australians | ✓ | |
Test for top 3 conditions among other ethnic groups | ✓ | |
Customised panels possible where required (e.g., for donor matching) | ✓ |
What's the cost?
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. Please ensure you have signed your referral form before uploading.
Download the genetic carrier screening referral form
Monash IVF'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.
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.
Available for patients assigned female at birth with Medicare.
Recommended for those individuals using international or clinic-recruited donor gametes.
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 Gynecologists
Download an Info Pack
Not sure yet that genetic carrier screening is right for you?
Get access to more resources such as our “What is Genetic Carrier Screening and Why Is It Important?” video and our “12 Common Questions About Carrier Screening” document.
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. Punj S, Huang J, Akkari Y, et al. Preconception carrier screening by genome sequencing: results from the clinical laboratory. Am J Hum Genet. 2018;102:1078–1089.
3. RANZCOG. Genetic carrier screening C-Obs. March 2019. Genetic carrier screening (ranzcog.edu.au).
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Wherever you are on your journey, one of our supportive nurse enquiry team can help you understand your options and take the next step. These conversations are free and informative.