Genetic Carrier Screening

Pre-conception genetic screening allows you to make informed choices as you grow your family. Whether you want to know if you and partner are genetic carriers for certain conditions, or you’re looking to screen yourself individually for peace of mind there are a range of screening options to help you understand any risk. Reproductive genetic carrier screening identifies your risk of having a child with a genetic condition that can have a significant impact on the child’s health and development.

Why consider carrier screening? 

People often have no knowledge that they are carriers of a genetic condition. Reproductive carrier screening looks for genetic variants in a person’s genes that may cause a health condition. The results provide information for couples about the chance of having a child with a genetic condition, before falling pregnant. Testing can be performed either by blood test or on a cheek swab in the comfort of your own home, making it a safe and reliable step to having a healthy family.

We have a number of genetic carrier screening services available. Find out which carrier screening option is best for you below.

Carrier Screening Options

Carrier Screening Options

Core Carrier Screen

Core Carrier Screen is an individual approach, with 3 key genes screened.

Core is a blood or cheek swab test that identifies individuals who are carriers of a genetic condition that can have a significant impact on a child’s health and development. Results will show the carrier status for several common genetic conditions, including cystic fibrosis, spinal muscular atrophy, fragile X syndrome.

The test at a glance:

  • Individual carrier status reported for cystic fibrosis (CF), spinal muscular atrophy (SMA), fragile x syndrome.

  • Blood or saliva test collection

  • Virtus Genetics’ leading Australia-based laboratories

  • Trusted and quick results in 2-4 weeks

  • Genetic Counselling is available pre and post testing

Core + Carrier Screen

Core Carrier Screen is an individual approach, with 6 key genes screened

Core is a blood or cheek swab test that identifies individuals who are carriers of a genetic condition that can have a significant impact on a child’s health and development. Results will show the carrier status for several common genetic conditions, including cystic fibrosis, spinal muscular atrophy, fragile X syndrome, and alpha and beta thalassemia.

The test at a glance:

  • Individual carrier status reported for cystic fibrosis (CF), spinal muscular atrophy (SMA), fragile x syndrome and alpha and beta thalassemia.
  • The option to screen via saliva test at home or blood test collection
  • Virtus Genetics’ leading Australia-based laboratories
  • Trusted and quick results in 2-4 weeks
  • Genetic Counselling is available pre and post testing

Duo Carrier Screen

Duo is a couple approach, with 361+ genes screened.

The Duo Carrier Screen evaluates your genetic risk as a couple, rather than separately determining each person’s risk. Test results will show the carrier status for each partner regarding several common genetic conditions, including cystic fibrosis, spinal muscular atrophy, fragile X syndrome, and alpha and beta thalassemia.

Carrier status for other tested genes will be disclosed if there is a risk to your offspring or to your own health.

The test at a glance:

  • Up to 391 genes screened.
  • The option to screen via saliva test at home or blood test collection
  • Virtus Genetics’ leading Australia-based laboratories
  • Trusted results in 4- 6 weeks
  • Individual carrier status reported for cystic fibrosis (CF), spinal muscular atrophy (SMA), fragile x syndrome and alpha and beta thalassemia.
  • Carrier status for other tested conditions are reported only if a risk is found or there are personal health implications for those tested
  • Genetic Counselling is available pre and post testing

Note, Duo Carrier Screen cannot be used with donated eggs or sperm except in known donation cases.

Individual Expanded Carrier Screen (Fulgent)

Individual Expanded Carrier Screen (Fulgent) is a service recommended for those using egg or sperm donors or for those wanting to know their individual carrier status for all tested conditions.

The test at a glance:

  • Two panel options: either 289 genes or 700+ genes. 
  • The option to screen via saliva test at home or blood test collection
  • Testing is done via Fulgent based in the United States
  • Trusted results within 2 - 4 weeks
  • Individual carrier status reported for all genes tested on the panel
  • Genetic Counselling is available pre and post testing

Pre and post-test genetic counselling can be arranged through the Virtus Genetics team at no additional cost.

 

Ready to book your Genetic Carrier Screen?

Please book an appointment with our fertility specialists and they can advise which test is right for you. Or simply call 1800 111 483.

Genetic Carrier Screening FAQs

Is carrier screening covered by Medicare or is there a rebate available?

Yes, as of 1st November 2023 there is a new rebate for Genetic Carrier Screening for Cystic Fibrosis (CF), Fragile X syndrome (FXS) and spinal muscular atrophy (SMA). There is expected to be a Medicare item number for three condition carrier screening (CF, FXS, SMA) available from 1st November. If you wish to access this Medicare funded testing, please have your sample taken after the 1st November (samples collected before 1st November will not be eligible). Please contact us if you would like further information.

How much does genetic carrier screening cost?

Virtus Genetics is proud to offer Duo and Core genetic carrier screening, via their state-of-the-art laboratory based in Australia. They can also facilitate Individual Expanded Carrier Screen (Fulgent), located in the United States.

TestCost
Core Carrier ScreenBulk billed with Medicare eligibility If non Medicare eligible private fee: $340
Core + Carrier Screen$150 with Medicare eligibility. If non Medicare eligible private fee: $490
Duo Carrier ScreenCost $510 with Medicare eligibility. If non Medicare eligible private fee: $850
Individual Expanded Carrier Screen (Fulgent)$870 per person

For Virtus Genetics Carrier Screening Testing, pre and post-test genetic counselling can be arranged through the Virtus Genetics team at no additional cost.

Why should we consider genetic carrier screening if we have no family history?

Individuals often have no knowledge that they are carriers of a genetic condition. Carriers will have one healthy copy of the gene that works well enough to prevent them from developing symptoms of the condition. In contrast, children affected by these conditions have no working copies of the gene. Inheritance of these genetic conditions can happen in two main ways: Autosomal recessive and X-linked inheritance.

  • Autosomal recessive conditions: if both the male and female individuals are found to be carriers of a variant in the same gene, there is a 1 in 4 (25%) chance of having a child affected by that genetic condition. Most of the screened conditions are autosomal recessive.
  • X-linked conditions: Female carriers of an X-linked condition (caused by a gene on the X chromosome) have up to a 1 in 2 (50%) chance of having a child affected by that genetic condition, irrespective of the male reproductive partner’s carrier status.
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Who should be screened?

Carrier screening may be suitable regardless of your family history, genetic ancestry, or age. Most children born with a genetic condition will not have a family history of the condition. Nevertheless, if you are aware of a family history of a genetic condition, it is important to discuss this with your doctor.

When should we be screened?

The ideal time for reproductive carrier screening is when planning a pregnancy. Screening before becoming pregnant gives couples the widest array of reproductive options. Carrier screening is also commonly used in early pregnancy.