Genetic Carrier Screening Test

If you’re planning a pregnancy, genetic carrier screening is one of the most valuable steps you can take.

Genetic carrier screening is a simple test that helps 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 chance of having an affected child have access to all of their available reproductive options.

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) recommends all individuals planning a pregnancy, or in early pregnancy consider genetic carrier screening.

That’s why at Repromed our carrier screening program provides accurate, flexible testing for up to 787 genes with genetic counselling and access to local experts in IVF and clinical genetics for all those who need to make the next steps.

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.
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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.

Why you should consider Genetic Carrier Screening?

It gives you the information you need to make informed, proactive decisions about your reproductive health.

• Understand your and your partner’s combined genetic information
• Easy, non-invasive saliva collection — available anywhere in Australia by post
• Backed by a team of clinical geneticists, genetic counsellors, fertility specialists and ultrasound specialists
• Around 1 in 50 (2%) couples tested through expanded carrier screening are found to have an increased chance of having a child affected by a serious condition

Which panel is right for me?

For Reproductive Couples Using Their Own Eggs and Sperm

1. Medicare-Funded Panel (3-Gene + 13 X-Linked Conditions)

This test includes:

• Cystic Fibrosis (CFTR sequencing)
• Spinal Muscular Atrophy (SMN1)
• Fragile X Syndrome (FMR1 with AGG interruption analysis)
• Plus 13 additional X-linked conditions, including Duchenne Muscular Dystrophy (DMD) and Haemophilia A

Partner testing is provided for CF or SMA where indicated.

This option represents the best available Medicare-funded screening currently in Australia with full gene CFTR sequencing and testing for an additional 13 conditions.

2. Expanded Carrier Screening (787 Genes, Couples-Based Approach)

This comprehensive, pan-ethnic test screens both partners together for 787 genes, identifying conditions that may affect children regardless of ancestry.

It includes:

• Full CFTR gene sequencing.
• FMR1 (Fragile X) with AGG interruption analysis.
• Advanced detection of complex genes such as CYP21A2, HBA1/2, and DMD.
• State-of-the-art analysis optimised for high accuracy in clinically challenging genes.
• Results are reported as increased chance or low chance only: individual carrier status is not included in reports.

Around 1 in 50 reproductive couples are found to have an increased chance of having an affected child.

We strongly recommend this expanded panel as the clinically preferred model for all couples considering pregnancy. It offers the greatest scope for detection and represents the current standard of care in reproductive genetics.

The full list of conditions screened for is available to view here.

For people accessing donor gametes

Individual Expanded Carrier Screening

For people who are planning to use international or clinic-recruited donor eggs or sperm, we may recommend individualised test reporting that matches with your chosen donor or donor bank. Our experienced donor team can walk you through the process of screening in advance of donor treatment. If your results have an impact on your donor selection, our genetic counselling team will talk you through your options and provide support at every step of the journey.

Genetic Carrier Screening Options	Medicare Funded 3 Gene + 13 X-Linked	Expanded 787 Genes
Conditions included in screen	3 gene +13 X-Linked conditions	787
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 50
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	✓	✓
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 787 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 50 reproductive couples screen positive when using the expanded test. For these reproductive couples, there is approximately a 1 in 4 chance of having an affected child.

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 and we will walk you through the process and what to expect. You will have the option of using pathology collection in our clinic or having tests delivered to you at home.

2. If doing the test at home (via saliva)
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. If having a pathology test in a clinic (via blood draw)
Attend your clinic and the pre-organised time and a nurse will meet you for your blood test.

4. Receive your results
You and your doctor will receive your carrier screening results. The process usually takes about 4 weeks. Most people will be reassured, but about 1 in 50 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?

Three condition and expanded couples 787 carrier screening are 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 treating doctor. If you have already used your Medicare rebate to have three condition screening with another provider, additional payment will be requested by the testing laboratory.

Please ensure you have signed your referral form before uploading.
Download the genetic carrier screening referral form

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 ✓ Detailed instructions ✓ Support from our genetic counselling team Available for female patients with Medicare. Order now	Individual (1 test) $695.00 (OOP) ✓ 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	Couple (2 tests) $990.00 (OOP) ✓ 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

“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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