Genetic Carrier Screening
Why do Genetic Carrier Screening?
How It Works
At City Fertility, we partner with trusted providers like Eugene, who use a non-invasive saliva test to analyse your DNA for changes (variants) that could be passed to your child.
A saliva test kit is used to collect a sample from one partner first – usually the partner providing the egg. This can be done at home with guidance.
Your sample is sent to a specialist laboratory where your DNA is analysed for gene variants linked to serious inherited conditions, including cystic fibrosis, spinal muscular atrophy, and fragile X syndrome.
- If no variants are detected, further testing is generally not required.
- If you are identified as a carrier, your partner (or sperm/egg donor) may be tested to assess the chance of passing on the condition.
- From there, your fertility specialist will review your results and, if both partners are identified as carriers, may recommend a consultation with a genetic counsellor to discuss your options and guide your next steps.
Should I have genetic carrier screening?
Medicare Rebate
A Medicare rebate is available for reproductive genetic carrier screening, helping to make this important test more accessible and affordable for people planning a pregnancy or undergoing fertility treatment.
The rebate fully covers testing for the three most commonly inherited conditions in Australia:
- Cystic fibrosis (CF)
- Spinal muscular atrophy (SMA)
- Fragile X syndrome (FXS)
If you choose to undergo extended carrier screening for a wider range of conditions, this will involve an out-of-pocket cost not covered by Medicare.
To be eligible for the rebate, you must:
- Be planning a pregnancy or currently pregnant; and
- Not have previously had carrier screening testing
Your fertility specialist can help determine which type of screening is the most appropriate for you.
Next Steps
FAQs
01 What is a Medicare rebate?
A Medicare rebate helps cover the cost of certain medical tests and services in Australia. For eligible patients, this means reduced or no out-of-pocket cost. International patients are not eligible for Medicare.
02 What is the difference between NIPT and genetic carrier screening?
Genetic carrier screening identifies whether you carry genes for inherited conditions before pregnancy. Non-invasive prenatal testing (NIPT) screens for chromosomal conditions during pregnancy. NIPT is not currently covered by Medicare, whereas carrier screening may be, depending on eligibility.
03 What diseases are tested for during genetic carrier screening?
The standard Medicare-rebated test screens for the three most common inherited conditions:
- Cystic fibrosis (CF)
- Spinal muscular atrophy (SMA)
- Fragile X Syndrome
Alternatively extended carrier screenings can test up to 780+ genetic conditions.
04 When should I consider genetic carrier screening?
The best time to do genetic carrier screening is before pregnancy, during pre-conception planning or fertility treatment. This allows time to understand the results and explore options if needed. Screening can also be done early in pregnancy.