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 become pregnant, this will give you the opportunity to discuss your reproductive options, without a time restriction.

Who should have Reproductive Genetic Screening?

  • Those early in their pregnancy
  • Those planning a pregnancy (regardless of previous genetic history)
  • Those planning a pregnancy with a donor
  • Anyone who has a family history of genetic conditions

Which is the best Genetic Carrier Screening Test for you?

At Sydney Ultrasound for Women, we offer two carrier screening tests both are performed using a saliva or blood sample:

  • Carrier Screening for the 3 more common genetic conditions
  • Expanded Carrier Screening for up to 301 conditions including the 3 more common conditions

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 $150. Genetic Counselling Consultation $150.
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 $150 plus Laboratory testing fee. Genetic Counselling Consultation and shipping fee $160 AUD plus Laboratory testing fee.
Test Cost $389 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.

How do I get started?

Fill out your booking request below and one of our team members will be in touch with an appointment.
Appointments can be either by telehealth or face to face.