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Expanded Carrier Screening
Expanded Carrier Screening is an at-home pregnancy genetic test that checks to see if you have a higher chance of having a child with a serious genetic disease. It tests for 250+ genetic diseases that affect children, including cystic fibrosis, spinal muscular atrophy, Tay-Sachs Disease & fragile X syndrome.
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For people planning a pregnancy or within the first trimester |
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Screens for 250+ recessive and x-linked genetic conditions |
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Saliva sample collection |
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Free Genetic Counselling included |
$795.00 - $995.00
2-day return shipping Australia wide
No doctor referral needed
Results in 4-6 weeks
What genes are screened?
The test screens for 250+ inherited genetic diseases that affect children in Australia. The test includes common genetic diseases including:
CFTR — Cystic Fibrosis (CF)
SMN1 — Spinal Muscular Atrophy (SMA)
FMR1 — FragileX Syndrome
HEXA — Tay Sachs Disease
What can I do with the carrier test results?
If you test as an individual and you are a carrier, the first step is to confirm if your partner or your donor also carries the same condition.
If you test with a partner or donor and you are both carriers of the same condition, then you may consider:
- Prenatal testing to find out if your pregnancy is affected
- Medicare funded programs to use IVF technologies to prevent passing on the condition
Is this test right for me?
The best time to do the test is when you are planning a pregnancy or are within the first trimester of a pregnancy.
This test is ideal for people who want to get an essential understanding of their risk of having a child with a serious genetic condition. For a more comprehensive understanding of your risk, our comprehensive carrier screening covers up to 500 conditions.
About the lab
Your sample is processed at Invitae, an international medical laboratory that is NATA (National Association of Testing Authorities), CLIA (Clinical Laboratory Improvement Amendments) and CAP (College of American Pathology) certified.
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.
What's included
At-home sample collection kit
DNA analysis in a certified laboratory
Doctor reviewed test results
A consult with a genetic counsellor
As featured in
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Your saliva sample is destroyed after 30 days. In unusual cases when testing takes longer than 30 days, the specimen will be retained until the report is delivered.
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From the moment we receive your saliva sample, the turnaround time to get your results are 3 to 6 weeks.
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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.
Plus you can always access our free education tools or sign up for ongoing EugeneCare+ support.
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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.
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Core Carrier Screening includes Cystic fibrosis (CF), Spinal muscular atrophy (SMA) and Fragile X. These are 3 of the most common genetic disease that affect children in Australia. Just 1 in 20 people find out they are carriers of a condition on this test.
Our Comprehensive Carrier Screening option is much more inclusive to risks faced by everyone, because certain conditions are more common in different ethnicities — and its 2023, so most of us are more mixed than we think we are!
8 out of 10 people who do our comprehensive carrier screening test find out they are healthy carriers of at least one condition. Knowing this info in advance is really important because it can open up reproductive options and even significantly reduce the chance of passing the specific condition.
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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.
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This test is not meant to diagnose a person with any of the conditions screened for.
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As a healthcare company, we comply with the most stringent local and international privacy and security regulations. We take incredible care to use technical, process and physical safeguards to secure your personal information and protect it against misuse, loss or alteration.
Finally, Eugene doesn’t share any of your data with anyone but you, the lab, and (with your express permission) your doctor.