Genetic Carrier Screening

Planning for a baby?

Genetic carrier screening can help you understand your chance of passing on a serious inherited condition, even if you have no family history.

At Rosalind Genetics, we offer expert counselling and testing to help individuals and couples make informed reproductive choices. Carrier screening is simple, safe, and available before or during early pregnancy. It’s a powerful way to gain insight into your family’s future health.

What is genetic carrier screening?

Carrier screening is a simple blood or saliva test that looks for gene changes that probably don’t affect your own health, but could be passed on to your children. You may be a carrier for a genetic condition and never know, because most carriers have no symptoms and no family history.

If both you and your reproductive partner carry the same condition in your genes, there’s a chance your child could be born with that condition. Carrier screening helps identify this before or very early on in pregnancy, so you can explore your options and plan with confidence.

Types of carrier screening

At Rosalind Genetics, we offer three types of carrier screening. Our genetic counsellors will help you understand the scope of each option and what’s most appropriate for your situation.

Carrier Trio Carrier Ensemble Carrier Symphony
Conditions Screens for the three conditions covered by Medicare: cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile x syndrome. Screens for the three conditions covered by Medicare, as well as 600+ other conditions. Screens for the three conditions covered by Medicare, as well as 1,000+ other conditions.
Test Process The female reproductive partner is tested first. Only if she tests positive as a carrier do we then test the male partner. Option 1: the female reproductive partner is tested first, and the male partner is tested afterwards if she tests positive.

Option 2: both partners are tested at the same time. This is recommended as it works out to be more cost effective for the patient.
Both reproductive partners are tested at the same time.
Time to Results 3–4 weeks 3–4 weeks 6–8 weeks
Out-Of-Pocket Costs
(with Medicare only)
Bulk billed Option 1: $740 per individual
Option 2: $1,240 per couple
$1,640 per couple

Who is this service for?

The Royal Australian College of General Practitioners (RACGP) recommends that genetic carrier screening be offered to anyone planning a pregnancy or currently pregnant. You may consider it if:

You want to understand your reproductive risks before conceiving

You’re already pregnant and want early, safe testing

You’re using IVF, donor sperm or donor eggs

There’s a known genetic condition in your family

You come from a background with higher carrier rates (e.g. Ashkenazi Jewish, Mediterranean, Southeast Asian)

You don’t need to have a known family history to benefit from testing.
Many people who carry a genetic condition have no idea until they’re screened.

What to expect

You don’t need to have a known family history to benefit from testing. Many people who carry a genetic condition have no idea until they’re screened.

1

Get a referral

From your GP, obstetrician, or fertility specialist.

2

Consultation

Meet with one of our genetic counsellors (in person or via telehealth).

3

Family history

Discuss your family history and whether testing is appropriate.

4

Undertake testing

Undertake testing (if needed). We’ll explain what it covers and what results mean.

5

Results

Receive your results with clear guidance and emotional support.

6

Next steps

Plan your next steps with confidence, whatever the outcome.

1. Get a referral

From your GP, obstetrician, or fertility specialist.

2. Consultation

Meet with one of our genetic counsellors (in person or via telehealth).

3. Family history

Discuss your family history and whether testing is appropriate.

4. Undertake testing

Undertake testing (if needed). We’ll explain what it covers and what results mean.

5. Results

Receive your results with clear guidance and emotional support.

6. Next steps

Plan your next steps with confidence, whatever the outcome.

Medicare and costs

Some reproductive genetic services are eligible for Medicare rebates, especially if there’s a relevant family history or medical indication. We’ll explain any out-of-pocket costs upfront before proceeding with testing.

Please note, there is no obligation to proceed with testing after the initial consultation. 

Why Choose Rosalind?

Our team is made up of highly qualified clinical geneticists and counsellors, with deep experience in reproductive genetics. We’re here to support you with expert advice, kind guidance, and timely care – whether you’re just starting to plan or already expecting.

Frequently Asked Questions

Do I need a referral?

Yes. Your GP, obstetrician, or fertility specialist can provide a referral to our service.

In most cases, we recommend having a consultation with a genetic counsellor first. They’ll help you understand which tests are appropriate and how results may affect your choices. You can book one here.

We’ll walk you through your options – including IVF with genetic testing, prenatal diagnosis, or using a donor. The choice is always yours.

Yes – testing in early pregnancy is still helpful, though pre-pregnancy is ideal. We’ll tailor advice based on your timeline.

Results are typically ready in 2-4 weeks. We’ll let you know what to expect when we order your test.

Reach out to us at gene@rosalindgenetics.com or call us on 1300 042 132.