Understand your reproductive options with Monash Ultrasound for Women’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 existing patient to access Monash Ultrasound for Women’s genetic carrier screening test. Please call any of our MUFW Clinics to book an appointment. Alternatively, you can order via our sister clinic Monash IVF, and opt to have a saliva test sent to you to complete in the comfort of your own home.

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.

Order now

The ‘Order now’ link above will take you to the Monash IVF site to complete your order.

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). 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 Ultrasound for Women’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
  • 1 saliva testing kit
  • Detailed instructions
  • Support from our genetic counselling team

Available for female patients with Medicare.

Order now

‘Order now’ link above will take you to the Monash IVF site to complete your order.



financing available

Expanded

Individual (1 test)

$695

Out of pocket
  • 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

‘Order now’ link above will take you to the Monash IVF site to complete your order.



financing available

Expanded

Couple (2 tests)

$990

Out of pocket
  • 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

‘Order now’ link above will take you to the Monash IVF site to complete your order.



financing available

Common Questions

Don’t see your question below? Call any of our MUFW clinics.

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 Ultrasound for Women 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 Ultrasound for Women 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 any of our MUFW clinics 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.

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

 

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).