Core Carrier Screening

$0.00

At home genetic test for women/AFAB in early pregnancy or preconception that checks your risk of passing on three of the most common genetic diseases to your child - cystic fibrosis, spinal muscular atrophy & fragile X syndrome. You only need to order one test kit for yourself, as your male/AMAB parter does not get screened unless your results show you are a carrier. If this happens, we'll send you another kit free of charge.

Medicare

This test is 100% covered by Medicare, once per lifetime for people who are eligible. If you meet the criteria below, you can bulk bill and pay nothing upfront.

Eligibility criteria

Valid green Medicare number
Assigned female at birth
Pregnant or planning a pregnancy
Australian citizen or permanent resident
Medicare benefit for a carrier screening not previously claimed
Clinical necessity for the test (our medical practitioners will determine this)

Medicare: Bulk bill

Bulk bill Pay upfront

Bulk bill option available

1 saliva sample kit for the female

Free genetic counselling included

Results ready within 4 weeks

Is the Core test right for me?

Core is our most basic test and isn't suitable for everyone. Firstly, if you're the one with the sperm, this test isn't for you. Only your reproductive partner with the eggs needs to be screened.

It also might be the cheapest but it isn't that thorough. 70% of at risk couples will be missed when only screening for these three diseases. They most commonly affect caucasians so if you have a different ethnic background, or a family history of an inherited condition, you would benefit more from screening for more genes with our Comprehensive Carrier Test.

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What genes does the Core test screen for?

The test screens for common variations known to cause 3 of the most common inherited genetic conditions that affect children in Australia.

CFTR — Cystic Fibrosis (CF)

SMN1 — Spinal Muscular Atrophy (SMA)

FMR1 — FragileX Syndrome

What genes does the Core test screen for?

What can I do with the Core test results?

If you are a carrier, the first step is to confirm if your partner or your donor also carries the same condition. We offer this confirmation step at no charge to you. Please note partner testing can take up to 4 additional weeks.

If you are both carriers, you may consider:

Prenatal testing to find out if your pregnancy is affected
Using the latest IVF technologies to prevent passing on the condition

What can I do with the Core test results?

About the Australian lab

Your sample is processed NATA accredited medical-grade genomics laboratory in Victoria.

This means they meet high standards to obtain national certifications and submit themselves to regular inspections. It also means your results can be used to guide your pregnancy plans and be directly actioned at your doctor's office.

At-home sample collection kit

DNA analysis in a certified laboratory

Doctor reviewed test results

Consult with a genetic counsellor

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What ongoing care is available once I have my test results?

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.

I don't have a family history of any of the conditions, is this still relevant for me?

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.

What are the differences between all the Eugene carrier screening options?

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.

How often are people found to have a high reproductive risk for the core test?

1 in 240 couples find out they have a high risk of having a child with one of the 3 conditions we screen for in this test.

With our Comprehensive Carrier Screening, 1 in 40 partners find out that they have a high risk of having a child with one of the 500 conditions on the test.

Can this test diagnose me with any of the conditions screened for?

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

Can I access the Medicare rebate?

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.

Can I do the Core test if I'm not eligible for Medicare?

Yes you can purchase the test without Medicare for $399. Just select the 'Pay upfront' option when you purchase.

Does my male/AMAB partner need to be tested?

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.

Can I order more than one core test for my partner?

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.

Can I purchase the test if I am male/assigned male at birth?

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 500+ others.

Can I purchase a core test if I am male/assigned male at birth?

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.

Core Carrier Screening