Comprehensive Carrier Screening

$949.00

Comprehensive carrier screening is an at-home genetic test that checks to see if you have a higher chance of having a baby with a serious genetic disease. It tests for 780+ genetic conditions that affect children, including cystic fibrosis, spinal muscular atrophy, Tay-Sachs Disease, thalassemia, and fragile X syndrome. It's available for individuals, couples & donors as this test provides individual results as well as a reproductive risk assessment in the form of a combined report.

Test is for: Individual

Individual Couple Individual & known donor

For individuals, couples & donors

Results ready within 4 weeks

Saliva sample collection

Free genetic counselling included

Is the Comprehensive test right for me?

Comprehensive Carrier Screening is our most comprehensive and inclusive test for individuals and couples who want to get a thorough understanding of their risk of having a child with a serious genetic condition.

It's the best option for those who are interested in knowing their individual carrier status, are doing the test solo, using a donor, aren't eligible for Medicare, have Ashkenazi Jewish ancestry, or simply want to do everything they can to understand their risk of passing a genetic disease to their child.

What genes are screened on the Comprehensive test?

Comprehensive Carrier screens for 780+ inherited genetic diseases that affect children in Australia including:

CFTR — Cystic Fibrosis (CF)
SMN1 — Spinal Muscular Atrophy (SMA)
FMR1 — FragileX Syndrome
HEXA— Tay Sachs Disease
HBA1/HBA2 — Alpha-thalassemia

It also screens for some gene variants that aren't covered in our other tests such as hearing and vision loss conditions, CAVD, which can influence fertility, or the GBA gene associated with Gauchers disease, which is common in the Ashkenazi Jewish population.

What genes are screened on the Comprehensive test?

What can I do with the Comprehensive 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

What can I do with the Comprehensive test results?

About the lab

Your sample is processed at our international medical laboratory that is 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.

At-home sample collection kit

DNA analysis in a certified laboratory

Doctor reviewed test results

Consult with a genetic counsellor

As seen in

What happens to my sample once the test is completed?

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.

What is the turnaround time for the Comprehensive test?

From the moment we receive your saliva sample, the turnaround time to get your results are ready within 4 weeks.

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 risk for the comprehensive test?

1 in 40 partners find out that they have a high risk of having a child with one of the 780+ 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.

How is my data stored and shared?

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.

Why is this test not covered by Medicare?

Unfortunately Comprehensive carrier screening isn't covered by Medicare just yet. This is because the testing is done by our offshore lab as previously no Australian labs have offered larger panels.

Is the comprehensive test suitable for LGBTQ+ couples?

Yes, this test may be suitable for you if you are in same-sex couple where you have decided who is planning to be the carrier and are working with a known donor.

Comprehensive Carrier Screening