What is Genetic Carrier Screening?

Reproductive genetic carrier screening tests for genetic changes which have little or no impact on your own health but may cause significant health conditions for your children.

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) and the Human Genetics Society of Australia (HGSA) have released guidelines which recommend that information about reproductive carrier screening be offered to everyone either prior to conception, or in early pregnancy.

In particular, the RANZCOG guidelines recommend options for carrier screening include screening with a panel for a limited selection of the most frequent conditions or screening with an expanded panel that contains many disorders (up to hundreds) (March 2019).

These 3 conditions, Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X are among the most common inherited conditions in Australia. However, there are hundreds of genetic conditions which are inherited in the same way. Some of these genetic conditions may be more relevant if you are from a specific ethnic background. At Sydney Ultrasound for Women, we can test for hundreds of genetic changes at the same time using DNA sequencing technology, known as expanded carrier screening.

We are all carriers of at least 3-5 genetic conditions but may never be aware of it. Most carriers are healthy individuals who have no family history of the genetic condition(s) they carry.

Although carrier screening can be done at any time, it is best to be tested before you fall pregnant, this will give you the opportunity to discuss your reproductive options, without a time restriction.

Which is the best Genetic Carrier Screening Test for you?

At Sydney Ultrasound for Women, we offer two carrier screening tests, Carrier Screening for the 3 more common genetic conditions and Expanded Carrier Screening, testing for both is performed on a saliva or blood sample.

Test RANZCOG/HGSA-recommended
3 conditions screening
RANZCOG recommended
Expanded carrier screen
Screening Screens for the more common conditions;
Cystic fibrosis, Spinal Muscular Atrophy and Fragile X syndrome.
We offer Prepair.
Screens for 288 genetic conditions, including the three recommended by the RANZCOG/HGSA.
We offer Invitae.
Consultation Genetic Counselling Consultation $200. Genetic Counselling Consultation $200.
Timing Pre-pregnancy or in early pregnancy. Pre-pregnancy or in early pregnancy.
Sample Saliva sample.
Sample is tested at VCGS.
Saliva sample.
Samples are tested overseas in the United States.
Cost Genetic Counselling Consultation $200 plus Laboratory testing fee. Genetic Counselling Consultation and shipping fee $200 AUD plus Laboratory testing fee.
Test Cost $389 You will be invoiced a fee of $250 USD by the laboratory for the cost of the testing.
Partner testing is performed at an additional cost of $100 USD and can be done simultaneously or consecutively.
Medicare Maybe available for some testing done in Australia. Conditions apply. No Medicare rebate.
Results Turnaround time: 10 business days from receipt of sample.
Our Genetic Counsellor will phone you with your results.
Turn around time: 12-21 business days from receipt of sample.
Our Genetic Counsellor will phone you with your results.

What to Expect?

At your first consultation, our experienced genetic counsellors will take a detailed family history from you and discuss your testing options.

If you decide to go ahead with testing a saliva or blood sample is collected. Depending on the test your saliva collection will either be by swab or spit (liquid saliva).

Once the results have been received, your genetic counsellor will contact you to discuss your results. Depending on your result a post-test genetic counselling consult may be required to deliver your results, discuss any additional testing required, and offer you options for reproductive testing if need be.

How do I get started?

You can self refer or ask your GP or Obstetrician for a Genetic screening referral to Sydney Ultrasound for Women.

Call 1300 557 226 or use our online appointment booking form.



You don’t need a GP referral to make an appointment for Genetic Screening. Simply fill out your preference below and our bookings team will confirm your appointment. Our Genetic Counsellors are available at Kent St (Sydney CBD), Chatswood and Kogarah.

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