Genetic carrier screening helps you make informed choices for you and your family and now it’s bulk billed.*
*Medicare criteria apply
Genetic carrier screening is a test that provides information for couples about the chance of having a child with any of the three most common inherited genetic disorders – cystic fibrosis, spinal muscular atrophy and fragile X syndrome.
One in 20 Australians will be a carrier for at least one of these conditions. Carriers are usually unaffected by the condition themselves, but have a higher risk of having an affected child.
Knowing your carrier status can be extremely useful when making reproductive choices. The only way to know your carrier status is by genetic testing and the best time to have this testing is before pregnancy.
*Core Genetic Carrier Screening referrals that are not equivalent may be refused.
Hear from our Chief Scientist, Genomic Diagnostics
Our expert Genomic Diagnostics team will use the DNA from your blood sample to test for the most common inherited genetic changes that cause cystic fibrosis, spinal muscular atrophy and fragile X syndrome.
Steps to get a genetic carrier screen
2. Have a blood test
Visit your local Healius Pathology collection centre to have your blood sample taken.
1. See your doctor to get a request
Your doctor will discuss genetic carrier screening with you and complete a request form.
2. Have a blood test
Visit your local pathology collection centre (or any of our 2,000 Healius Pathology network collection centres) to have your blood sample taken.
3. See your doctor to get your results
Your genetic carrier screen results will be delivered to your doctor within 10 working days.
If you and your partner are identified as a carrier couple, we will offer free genetic counselling to support you with your next steps.
Hear from a Genetic Counsellor
If you and your reproductive partner are found to be a carrier couple for any of these conditions, you have the option of being referred by your clinician to a genetic counsellor.
We provide genetic counselling free of charge for carrier couples when at least one partner has their test at one of our Laverty Pathology or Healius Pathology network collection centres.
Genetic carrier screening FAQs
Genetic carrier screening is testing to identify an increased risk of having children with three of the most common inherited genetic disorders: Cystic fibrosis, spinal muscular atrophy, fragile X syndrome.
One in 20 Australians will be a carrier for at least one of these conditions. Most will not have a family history of the disease. Carriers are usually unaffected by the condition themselves, but have a higher risk of having an affected child.
The Royal Australian and New Zealand College of Obstetricians and Gynaecologists recommends offering carrier screening to all women considering pregnancy or in their first trimester of pregnancy.
Cystic fibrosis, spinal muscular atrophy and fragile X syndrome can have devastating effects on life-expectancy and quality of life.
- Cystic fibrosis is the most common inherited disorder in Caucasians.
- Spinal muscular atrophy is the most common genetic cause of mortality in children under two.
- Fragile X syndrome is the most common form of inherited intellectual disability.
Cystic fibrosis and spinal muscular atrophy are autosomal recessive conditions, which means both parents must be carriers to have an affected child. Fragile X syndrome is an X-linked condition, so only the mother must be a carrier to have an affected child.
Genetic testing is the only way to find out whether or not you are a carrier for one of these conditions.
Knowing your carrier status can help you make informed choices. For many people, genetic carrier screening provides peace of mind. For those with a higher risk of having an affected child, it provides the opportunity to consider a range of options.
If you are found to be carriers of a condition, there are several reproductive options you can discuss with your doctor including:
- natural pregnancy, with or without prenatal diagnosis
- preimplantation genetic diagnosis with in vitro fertilisation (IVF) to test and then transfer embryos that are free of the condition
- the use of a sperm or egg donor
The best time to have carrier testing is before pregnancy, if possible. This gives you the widest range of reproductive choices and allows more time to make important decisions. However, testing can still be performed during pregnancy, ideally before 12 weeks.
Genetic carrier screening involves getting a simple blood test at your local Healius Pathology collection centre.
We recommend that the female partner get tested first, followed by the male partner if required for cystic fibrosis or spinal muscular atrophy.
Yes, genetic carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome is bulk-billed.* It’s available free of charge once per lifetime for:
- patients who are pregnant or planning pregnancy
- reproductive partners of carriers of cystic fibrosis or spinal muscular atrophy.
*Medicare eligibility applies
A carrier is someone who has one gene with a genetic variation and one gene that is unaffected. Carriers are typically symptom-free and do not know that they carry this variation.
Our expert Genomic Diagnostics team will use the DNA from your blood sample to test for the most common genetic changes that cause cystic fibrosis, spinal muscular atrophy and fragile X syndrome.
If both partners are identified as carriers for cystic fibrosis or spinal muscular atrophy, or the female partner is identified as a carrier for fragile X syndrome, they are considered to be a carrier couple.
When the female partner is not identified as a carrier, the couple is considered to have a much lower risk of having an affected child.
Recessive diseases are caused by changes (called genetic variants) in both copies of a person’s genes. Every person has two copies of each gene, one inherited from each parent. A recessive disease occurs when both copies of the same gene have the same variant. Cystic fibrosis is an example of a recessive disease.
When two parents are carriers of the same genetic disease, their children have a 1 in 4 (or 25%) chance of having that disease.
With X-linked conditions, such as fragile X syndrome, only the mother must be a carrier to have an affected child.
Generally, no follow-up testing is suggested for the diseases screened as your carrier status does not change.. It is important to understand that no screen is able to identify every carrier of every disease. Speak to your healthcare provider if you have special concerns due to family history or other factors.
If you and your reproductive partner are found to be a carrier couple for any of these conditions, genetic counselling is available. This will provide information about the condition and enable in-depth discussions about your options, whether you are already pregnant or planning to have a child.
As well as genetic carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome, we offer expanded genetic carrier screening that can test for up to hundreds of conditions. The expanded test is not covered by a Medicare rebate.
DNA can be extracted from all sorts of samples, including blood and saliva. We use blood to get the highest quality DNA for a quick and reliable result. This blood sample collection can be easily added to other routine antenatal blood screening tests that your doctor requests for you.
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