What is Genetic Carrier Screening?

Reproductive genetic carrier screening tests you and your partner 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 every woman 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 both are performed on a simple saliva sample:

  • Carrier Screening for the 3 more common genetic conditions
  • Expanded Carrier Screening

The following table shows the difference between the two carrier screening tests available:

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. Screens for over 280 genetic conditions, including the three recommended by the RANZCOG/HGSA.
Consultation Genetic Counselling Consultation $130. Genetic Counselling Consultation $130.
Timing Pre-pregnancy or in early pregnancy Pre-pregnancy or in early pregnancy
Sample Saliva sample.
Sample is tested in a Victorian laboratory.
Saliva sample.
Samples are tested overseas in the United States.
Cost Genetic Counselling Consultation $130 plus Laboratory testing fee. Genetic Counselling Consultation and shipping fee $160 AUD plus Laboratory testing fee.
Test Cost $385 You will be invoiced a fee of $250 USD (Approx. $350 AUD) by the laboratory for the cost of the testing.
Partner testing is performed at an additional cost of $100 USD (Approx. $140 AUD) 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. Results will be discussed with you with one of our Genetic Counsellors. Turn around time: 10-21 business days from receipt of sample. Results will be discussed with you with one of our Genetic Counsellors.

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 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 for Sydney Ultrasound for Women.

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