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 have significant health implications for future 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 limited panel for the three most common single gene conditions or screening with an expanded panel that contains many single gene conditions (up to hundreds) (March 2019).

The three most common single gene conditions in the Australian population are Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X syndrome. 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 either the three most common genes in limited carrier screening or 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 are pregnant as this provides you with the most reproductive options. Testing prior to pregnancy also gives you the opportunity to discuss your reproductive options without a time restriction.

Our Genetic Carrier Screening Model of Care

At Sydney Ultrasound for Women, we offer a complete model of care. We have qualified nurses that will take your samples, Genetic Counsellors that can discuss your particular needs and interpret your results, and highly skilled Medical Specialists to assist should there be a need for further testing. Services are provided in our clinics.

There are two options for genetic carrier screening: a three gene panel screening and an expanded panel screening. The three gene panel tests for 3 conditions: Cystic fibrosis, Fragile X syndrome and Spinal muscular atrophy. About 1 in 200 couples find out they have a increased chance of passing on one of these conditions to their child. This test is to screen the egg-contributing partner first.

The expanded panel tests for over 400 conditions, including the 3 conditions listed above as well as hundreds of other conditions that are equally serious, such as Thalassaemia, Duchenne muscular dystrophy (DMD), Haemophilia and Sickle Cell Disease. About 1 in 30 couples find out they have a high chance of passing on one of the 400+ conditions to their child. This test screens for over 400 genetic conditions including the 3 most common single gene conditions in Australia.

Testing is done on a saliva or blood sample. Our sister clinic, Monash Ultrasound for Women in conjunction with Monash IVF, provides a similar test that can be ordered online, and saliva samples are taken by you in your home. Please see this link for more details.

If you or your partner have a family history of a genetic condition please send us an inquiry and our genetic counselling team will be in touch with you to discuss what the most appropriate testing is for your situation. Hit the ‘Contact Us for an Inquiry’ button to the right of this page and include details of the condition in your family.


Three gene panel Bulk billed
Expanded panel (individual) $695
Expanded panel (couple) $990

As of 1 November 2023, Medicare is funding three gene carrier screening. This means there is no out-of-pocket cost for the three gene test.

The turnaround time for results is 2-4 weeks for the three gene panel and 4-6 weeks for the expanded panel.

What to Expect?

Prior to the appointment, we ask that you read over the information you have been emailed plus watch the online video. If have any questions please feel free to make inquiries online via ‘Contact Us for an Inquiry’ to the right of this screen.

On arrival at our clinic, you will be seen by a Registered Nurse who will check that you are OK to proceed with the testing and complete the necessary papers for the laboratory. Testing will be either by saliva or blood.

Turnaround time is approximately 6 weeks for results.

Your results will be emailed to you and to your referring doctor if you have elected a referring doctor. If you receive a high risk result, one of our Genetic Counsellor will contact you to discuss the result and any additional testing required, and/or offer you options for reproductive testing if need be.

If carrier screening has been performed as a couple and there has been a change in your relationship your new partner would require carrier screening.

Please note, genetic carrier screening only determines carrier status for single gene conditions. It does not screen for other types of genetic conditions such as chromosome conditions (e.g. Down syndrome) or adult onset conditions (e.g. inherited cancers).

Usually, being a carrier for a single gene does not have implications for an individual’s own health. However, there are exceptions. For example, this test may reveal mild or atypical cystic fibrosis, sometimes presenting as male infertility. In some cases, genetic test results may have an impact on your eligibility for certain premiums associated with health/disability/trauma or life insurance.

If you have concerns about the impact of this test on your insurance needs, please obtain independent information from your insurer.

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.

It is important to let us know if you are pregnant.

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


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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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