When should I be tested?

The best time to have carrier testing is before pregnancy, if possible. This gives you the widest range of reproductive choices and allows more time to make important decisions. However, testing can still be performed during pregnancy, ideally before 12 weeks.

Does Medicare cover the cost?

Yes, genetic carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome is bulk-billed. It's available free of charge once per lifetime for patients who are pregnant or planning pregnancy, and reproductive partners of carriers of cystic fibrosis or spinal muscular atrophy. Medicare eligibility applies.

A carrier is someone who has one gene with a genetic variation and one gene that is unaffected. Carriers are typically symptom-free and do not know that they carry this variation.

How does the screening work?

Our expert Genomic Diagnostics team will use the DNA from your blood sample to test for the most common genetic changes that cause cystic fibrosis, spinal muscular atrophy and fragile X syndrome. If both partners are identified as carriers for cystic fibrosis or spinal muscular atrophy, or the female partner is identified as a carrier for fragile X syndrome, they are considered to be a carrier couple.

What if I am not a carrier?

Generally, no follow-up testing is suggested for the diseases screened as your carrier status does not change. It is important to understand that no screen is able to identify every carrier of every disease. Speak to your healthcare provider if you have special concerns due to family history or other factors.

Is a blood or saliva sample required for Genetic Carrier Screening?

DNA can be extracted from all sorts of samples, including blood and saliva. We use blood to get the highest quality DNA for a quick and reliable result. This blood sample collection can be easily added to other routine antenatal blood screening tests that your doctor requests for you.

Genetic Carrier Screening New

About our test

What is Genetic Carrier Screening?

Genetic Carrier Screening is a DNA test that helps identify individuals or couples who may be at increased risk of having a child with a serious inherited genetic disorder. This information can support informed reproductive decisions.

While more than one in 20 Australians is a carrier of at least one genetic condition, most have no family history of the disorder. In fact, everyone carries at least one genetic condition, but most people are healthy and may not realise how this could impact their children.

Genetic testing is the only way to find out whether or not you are a carrier for these conditions. Knowing your carrier status can provide peace of mind, and for those with a higher risk, it opens the door to consider a range of reproductive options.

Which test is right for you?

	Standard Carrier Screening	Expanded Carrier Screening
What it screens for	The three most common inherited disorders in Australia: Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA), and Fragile X Syndrome (FXS)	Over 600 conditions (females) / 550 conditions (males), including rare disorders beyond the standard three
Best for	Those looking for a focused assessment of the most prevalent conditions	Those wanting the most comprehensive insight into their reproductive risk
Conditions detected	CF (most common inherited disorder in Caucasians), SMA (most common genetic cause of mortality in children under 2), FXS (most common form of inherited intellectual disability)	A wide range of autosomal recessive and X-linked conditions (using Natera Horizon panel)
Inheritance explained	CF & SMA: Autosomal recessive (both parents must be carriers). FXS: X-linked (mother can be a carrier to pass it on)	Autosomal recessive and X-linked inheritance patterns across hundreds of conditions

How does the test work?

Our expert Genomic Diagnostics team uses DNA from your blood sample to analyse the relevant genetic changes.

Standard test: Screens for the most common genetic changes causing CF, SMA, and Fragile X syndrome.
Expanded test (Natera Horizon): A highly accurate screen that delivers quality results in just 3–4 weeks from the time your sample is received at the lab. You can choose to take the test individually or with your partner, based on your needs.

Support at every step

We are committed to supporting you throughout the screening process:

Free genetic information sessions (pre- and post-test) are included with our expanded carrier screen.
Free genetic counselling is available post-test for high-risk couples where at least one partner has their standard test at a Healius Pathology collection centre.
Dedicated Customer Care Team – available to answer any questions, ensuring you feel supported at every step.

Hear from a genetic counsellor

If you and your reproductive partner are found to be a high-risk couple for any condition (whether from the standard or expanded panel), your clinician can refer you to a genetic counsellor to discuss your reproductive options, including:

Natural pregnancy, with or without prenatal diagnosis
Pre-implantation genetic diagnosis (PGD) with IVF to test and transfer embryos free of the condition
Use of a sperm or egg donor
Adoption

Genetic Carrier Screening

Standard Genetic Carrier Screen

Expanded Genetic Carrier Screen - Single

Expanded Genetic Carrier Screen - Couple

About our test

What is Genetic Carrier Screening?

Which test is right for you?

How does the test work?

Support at every step

Hear from a genetic counsellor

Doctor referral

Sample collection

Test results

FAQ

Resources

Our collection centres