Genetic Carrier Screening Test

Understand your reproductive options with Monash IVF's Genetic Carrier Screening Test. This simple saliva test allows you to choose between a three gene panel or an expanded 400+ gene panel and understand your chances of passing on genetic conditions.

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 visit any of our pathology collection centres.

Genetic carrier screening kit

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.
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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 OptionsThree GeneExpanded
Conditions included in screen3400+
Patient OOP (for Medicare eligible individuals)N/A (bulk billed)$695/individual
$990/couple
Number of couples who screen positiveApprox. 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)
Hetero couple with baby low res 94

Buy your test and we will do the rest

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.

Same sex couple low res 38

Buy your test and we will do the rest

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. A copy of these instructions can be found here.

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Buy your test and we will do the rest

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 genetic carrier screening will find out they have an increased chance of having a child with a single gene condition.

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Buy your test and we will do the rest

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?

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.

Three Gene
Individual (1 test)
Bulk billed
no out-of-pocket
Genetic carrier screening kit
1 saliva testing kit Detailed instructions Support from our genetic counselling team

Available for female patients with Medicare.

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ZIP financing available
Expanded
Individual (1 test)
$695
out of pocket
Genetic carrier screening kit
1 saliva testing kit Detailed instructions Support from our genetic counselling team Hundreds of additional conditions screened for

Recommended for those individuals using international or clinic-recruited donor gametes.

Order Now
ZIP financing available
Expanded
Couple (2 tests)
$990
out of pocket
Genetic carrier screening kit
2 saliva testing kits Detailed instructions Support from our genetic counselling team Hundreds of additional conditions screened for

Recommended for couples considering starting a family, or for those using a known donor.

Order Now
ZIP financing available
Monash IVF Genetic 01

"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

Genetic carrier screening kit

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.

Download an Info Pack

Common Questions

Don’t see your question below? Give us a call on 1800 684 198.

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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. 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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