This guide is for you if you're:
Trying naturally
Trying naturally
Starting or already in IVF
Using an egg, sperm or embryo donor
Your guide to choosing the right carrier test
Three tests, three levels of detail. Which one is right depends less on the science than on your situation: how you're conceiving, whether a donor is involved, and how much clarity you want before you start.
80%+
of healthy people carry at least one condition without knowing
~90%
of couples who have a child with a serious inherited condition had no family history
2 to 3%
of couples are identified as being at increased reproductive risk. Most results are reassuring
Carrier screening is about your future children, not your own health
It looks at whether you or your partner carry genetic variants that could affect a future child. You can be perfectly healthy, with nothing at all in your family history, and still be a carrier. When both reproductive contributors carry the same condition, that's when risk matters. If both partners test, you get the fullest picture of your combined reproductive risk.
The three options
3 genes or 780+? Here's what the difference actually means
The Medicare-funded test covers 3 genes and misses around 70% of at-risk couples. We'd rather give you real options than overwhelm you with choice, so here's what each test does and who it suits.
Most thorough
Comprehensive
- Screens 780+ genes for hundreds of conditions.
- Our most thorough test, identifying ~90% of at-risk couples.
- Includes CF, SMA and FXS plus many more.
- Covers conditions relevant to all ethnic backgrounds.
- Full individual carrier report for each person, plus a combined interpretation.
- Flags conditions that may be relevant to your own health.
$1499 for couples. $949 for individual.
- You're doing IVF and your clinic needs full detail for embryo planning.
- You're using an egg, sperm or embryo donor.
- You're a same-sex couple or solo parent.
- You have mixed ancestry, or you simply want the fullest picture once.
Couples
- Screens 620+ genes focused on serious childhood conditions.
- Identifies approximately 80% of at-risk couples.
- Includes CF, SMA and FXS plus many more.
- Covers conditions relevant to all ethnic backgrounds.
- One combined result for the two of you, not individual carrier reports.
- Individual CF, SMA and FXS results provided for the female partner.
*Medicare eligibility required to purchase.
- You're a heterosexual couple trying naturally.
- You want to know your shared risk, and a combined result is enough.
- No donor is involved and IVF isn't on the cards.
- The Medicare rebate matters to your decision.
Core
- Screens for the 3 common inherited conditions: CF, SMA and FXS.
- Identifies 10 to 20% of at-risk couples, depending on your background.
- Female-first approach. If you're a carrier, your partner can then be tested.
*Medicare eligibility required. Full price $399.
- You've been offered the Medicare-funded test and want to do it from home. Rebate can only be claimed once.
- You want the guideline minimum as a starting point.
- You're in your first trimester and need a quick, guideline-level screen.
You don't have to get this right on your own.
Choosing a test is the part people get stuck on. It's also the part we're here for.
Talk it through before you commit
Every test includes genetic counselling. You can ask questions and confirm the right option before anything goes ahead.
Decide together
Carrier screening is usually a new topic for at least one of you. We give you the information in a form that's easy to share with your partner.
It can't be used against you
In Australia, reproductive carrier screening cannot be used in life insurance underwriting.
As seen in
Questions people ask before choosing
Does this affect my life insurance?
Does this affect my life insurance?
No. In Australia, reproductive carrier screening cannot be used for life insurance underwriting.
Is this test about my own health?
Is this test about my own health?
No. Carrier screening assesses risks to future children, not your personal health. The one exception is Comprehensive, which may flag a small number of conditions that could also be relevant to you.
Can we talk to someone before we decide?
Can we talk to someone before we decide?
Yes. You can speak with a genetic counsellor before proceeding. They'll review your situation, explain which test fits, and confirm the right option before anything goes ahead.
What if my partner isn't sure?
What if my partner isn't sure?
Completely normal. For most people this is a new topic. Your counsellor will talk you both through it, and there's no obligation to proceed.
What does the Medicare-funded test miss?
What does the Medicare-funded test miss?
The Medicare-funded screen covers three genes: cystic fibrosis, spinal muscular atrophy and fragile X. Those are the three most common, but they represent a fraction of serious inherited conditions, so the screen misses around 70% of at-risk couples. It's a reasonable starting point, and it isn't detailed enough for IVF or donor pathways.
What is the turn around time?
What is the turn around time?
From the moment we receive your samples back, our turn around time is approximately:
Core Carrier: Results ready within 4 weeks
Comprehensive: Results ready within 4 weeks
Couples Carrier (Medicare): Results in 6 - 8 weeks
All other tests: 4-6 weeks
Tests cannot be expedited and the turn-around time is subject to the performance of each sample at the lab. While some samples provide results after one attempt, others require multiple attempts. In a small number of cases, samples may fail and a new sample will be required. In this instance, the turn-around time will be as informed above from the moment we receive the new sample.
If you are doing this test with a reproductive partner, we need both results to be ready to prepare your couples report.
Once your results are available, we will send you an SMS inviting you to book an online video consult with one of our genetic counsellors to discuss your results.
I don't have a family history of any of the conditions, is this still relevant for me?
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.
How accurate is testing?
How accurate is testing?
Whilst testing is highly accurate for the genes screened, all results are reported as low risk, not no risk.
Your reported results are based on current knowledge and reporting guidelines at the time of testing.
Testing only identifies common genetic changes that cause these conditions and rare or family specific genetic changes might be missed.
Information may become available in the future which may change the interpretation of results.
You should always seek updated advice about carrier screening options when planning subsequent pregnancies.
Can I do carrier screening at the same time as an IVF treatment cycle?
Can I do carrier screening at the same time as an IVF treatment cycle?
If you commence an IVF treatment cycle or become pregnant before your carrier screening results are available, this may limit your reproductive testing options such as pre-implantation genetic testing of embryos.
Still deciding?
Order the test that suits your situation or you can book a quick chat with our genetic counsellors to understand further.
