Core+ Carrier Screening

The Core and Core+ carrier screening tests both check for the three most common inherited conditions in Australia — Cystic Fibrosis (CFTR), Spinal Muscular Atrophy (SMN1), and Fragile X Syndrome (FMR1).

The difference is in the way the DNA is analysed - The Core test looks for the most common changes in the CFTR gene which will detect ~91% of the Caucasian Australian population. While the Core+ test uses a highly accurate Next-Generation Sequencing (NGS) technology, which delivers improved detection rates: 99% for CFTR. This offers greater coverage for rarer variations that may be more prevalent in non-white populations.

Core+ also gives you access to an additional 13 extra X-linked conditions, using the same saliva sample. These X-linked tests also achieve high detection rates — up to 99% for most genes — meaning you can get broader insights without extra collection steps.

Both tests are covered by Medicare for eligible individuals assigned female at birth who are planning a pregnancy or already pregnant, and both have results ready in around four weeks.

Each test comes with a consult with a Eugene genetic counsellor to discuss your results and any options you want to consider. If you’d like, we’ll also provide specialist referrals to support your ongoing care or forward your results to your GP or specialist.

80% of babies born with an inherited genetic condition had no family history of it. That’s why Eugene’s carrier screening is relevant when you are planning a pregnancy, regardless of your family background or history.

If you do have a personal or family history of a genetic condition it is important to inform Eugene and your fertility specialist as this may influence which test is recommended to you.

Core Carrier Screening is our most basic test, which screens for 3 genes - cystic fibrosis (CF), spinal muscular atrophy (SMA) and Fragile X. It's for people assigned female at birth and is covered by Medicare (male partners only get tested if their partner is found to be a carrier). 70% of at risk couples will be missed with this test because these diseases most commonly affect caucasians. If you have a different ethnic background or a family history with inherited conditions, a larger panel is a better option for you.

Couples Carrier Screening screens 620+ genes and is covered by Medicare. It's a bundle of Core Carrier Screening for the person assigned female at birth and an additional extended panel for the couple. It only provides one combined couples report so not suitable for people who need to know their individual carrier status, like individuals testing solo or using donors.

Comprehensive Carrier Screening is our most comprehensive option which screens for 780+ genes and is suitable for individuals, couples and donors as it provides an individual carrier status report as well as a combined couples report. 8 out of 10 people who do this test find out they are healthy carriers of at least 1 condition. It isn't covered by Medicare as it's only available at international labs. It's perfect for people who aren't eligible for Medicare, want to do the test solo, couples who want to know their individual risk status as well as their combined, or those who want to do everything they can to reduce their risk of having a baby with an inherited condition.

This test is not meant to diagnose a person with any of the conditions screened for.

If you are eligible for a Medicare rebate, you have the option to bulk bill the test and pay nothing, or you can pay up front and manage your own claim. If you're not eligible for Medicare, you can still buy the test but you won't be able to get the rebate.

To be eligible, you must meet all of following criteria:

• Valid green Medicare number
• Assigned female at birth
• Australian citizen or permanent resident
• No previous claim for this test (the benefit is once per lifetime)
• Pregnant or planning a pregnancy

If you choose to bulk bill, we'll check that your Medicare number is eligible and if it's not, we'll send you an invoice for the full price of the test that you'll need to pay before we can proceed.

No they don't, only the person assigned female at birth needs to order a test kit. The male/AMAB partner will only be tested in the instance that your results indicate you are a carrier. If that happens, we will let you know in your results appointment and send you another test kit for your partner free of charge.

There is no need to order an additional test kit for your partner. The Medicare rebate is only available once per lifetime per person for this test so it's important that you only order one for yourself.

If you do order more than one test, the others will be returned and only one will be shipped.

Medicare only covers this test once per person in your lifetime, so please make sure to order just one test for yourself.

You don’t need to order a kit for your partner right now — we’ll only test them if your results show you’re a carrier of one of the conditions.

If more than one test is ordered, we’ll send you a single kit and cancel any extras to make sure everything’s in line.

No, only females/people assigned female at birth can order this test as they are the only ones who need to be tested and who are eligible for the Medicare rebate.

If you are male/AMAB and you order this test, you will be asked to provide your female/AFAB partner's details instead or if you don't have a partner, your order will be refunded.

If you need to do the test because your female/AFAB partner has been identified as a carrier on another test not done at Eugene, we unfortunately won't be able to help you at this stage as a male/AMAB Core test is not available from our lab. You can however order our Comprehensive Carrier Screening test, which screens for the same three conditions as Core as well as 700+ others.