Genetic Carrier Screening

Genetic carrier screening helps you make informed choices for you and your family and now it’s bulk billed.*

*Medicare criteria apply

What is genetic carrier screening?

Genetic carrier screening is testing to identify an increased risk of having children with three of the most common, severe inherited genetic disorders in the Australian population:

  • 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 chance of having an affected child.

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.

Why should I consider getting tested?

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
  • pre-implantation 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
  • adoption

About the genetic conditions screened

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.

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.

A STEP-BY-STEP GUIDE

Steps to get a genetic carrier screen

1. See your doctor to get a request

After discussing genetic carrier screening with you, your doctor will complete a request form.

2. Have a blood test

Visit your closest TML Pathology collection centre 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 – 14 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.

*from when it reaches the laboratory

Genetic carrier screening FAQs


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
  • adoption


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.

 

We recommend that the female partner get tested first, followed by the male partner if required for cystic fibrosis or spinal muscular atrophy. 

Genetic carrier screening involves getting a simple blood test at your local TML Pathology collection centre.

 

 

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 criteria apply

 


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 until they get tested.


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 specific 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. 

We provide genetic counselling free of charge for carrier couples when at least one partner has their test at one of our TML Pathology or Healius Pathology network collection centres. 


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.

Why choose carrier screening with TML Pathology ?

*Now bulk-billed. Ask your doctor about Medicare eligibility

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