Genetic Carrier Screening is a test that provides information for couples about the chance of having a child with a genetic condition.

Carrier screening tests for genetic variants (changes) in genes that can cause severe or life-threatening genetic conditions. Most carriers do not have any associated health concerns, and are often unaware that they carry a genetic variant. However, if one or both partners of a reproductive couple are carriers for a genetic condition, they may have a significant chance of having affected children.


Knowing your carrier status can be extremely useful when making reproductive choices. The only way to know your carrier status is by genetic testing, and the best time to have this testing is before pregnancy. Testing options include core genetic carrier screening, which tests for three common genetic conditions, and expanded genetic carrier screening, which can test for tens or hundreds of conditions.

Genetic Carrier Screening

*Core Genetic Carrier Screening referrals that are not equivalent may be refused.

Genomic Diagnostics offers two Genetic Carrier Screening Test options:

Core Genetic Carrier Screen
  • Detects the gene variations involved in three relatively common genetic conditions:
    • Cystic Fibrosis (CF)
    • Fragile X (FXS)
    • Spinal Muscular Atrophy (SMA)
  • Free partner testing for SMA or CF, where the female has tested as a carrier by Genomic Diagnostics
  • Free genetic counselling for positive carrier results

Results available within 10-12 business days.

Myriad Foresight Expanded Carrier Screen
  • Detects the gene variations involved in over 175 genetic conditions
  • Includes conditions such as
    • Tay Sachs disease
    • Congenital Adrenal Hyperplasia
  • Free genetic counselling support before and after the test

Results available within 10-15 business days from receipt in our overseas laboratory.


Many children affected by these conditions are born to families with no history of disease due to the relatively rare nature of the conditions and inheritance patterns. Importantly, if you are found to be carriers of a condition, there are several reproductive options you can discuss with your doctor including:

  • natural pregnancy, with or without prenatal diagnosis
  • preimplantation genetic diagnosis (PGD) with in vitro fertilization (IVF) to test and then transfer embryos that are free of the condition
  • the use of a sperm or egg donor
  • adoption

The ideal setting for carrier screening is preconception, in order to have the most time to deal with all possible testing outcomes. However, testing can also be performed early in pregnancy.

You will need a request form from your doctor to have this test. It is recommended to first test the female partner, and to only test her male partner if she is found to be a carrier. The Myriad Foresight Expanded Carrier Screen requires a specific request form to be filled in by your doctor, downloadable from the Request Forms page.

These tests are not covered by Medicare. If you undertake the Core Carrier Screen test with us, and found to be a carrier, your partner will be tested by us for free for the specific genetic variation. If you are both tested at the same time, you will need to pay for both tests.

Paying for the test will need to be done prior to having your blood taken.  You can pay online anytime by clicking here. If you have any concerns please call our Customer Care Team on
1800 822 999. They are available Monday to Friday from 8.00am to 6.00pm AEST.

A carrier is someone who has one gene with a genetic variation and one gene that is unaffected. Carriers are typically symptom-free and do not know that they carry this variation.

Think of it as an ultrasound for your DNA. Carrier screening is a way to see whether you carry certain gene variants that do not affect you, but can affect your children. If both you and your partner are carriers of the same genetic disorder, your child has a significant chance of suffering from a serious genetic disease. The only way to know your carrier status is by testing for it.

Recessive diseases are caused by changes (called genetic variants) in both copies of a person’s genes. Every person has two copies of each gene, one inherited from each parent. A recessive disease occurs when both copies of the same gene have the same variant. Cystic fibrosis is an example of a recessive disease. Some diseases have a different inheritance pattern – for example, when only the female needs to be a carrier to have a baby at risk.

It is important for you to know that you have options. When two parents are carriers of the same genetic disease, their children have a 1 in 4 (or 25%) chance of having that disease. For certain diseases, such as fragile X syndrome, only the mother needs to be a carrier for the child to have a high risk. Your medical professional is available to guide you through the various options to find out what is best for you. Knowing your carrier status before or early in your pregnancy gives you time to learn about the disorder and prepare. Our genetic counsellors are also available to provide support and help you fully understand your results.

Generally, no follow-up testing is suggested for the diseases screened. It is important to understand that no screen is able to identify every carrier of every disease. Speak to your healthcare provider if you have special concerns due to family history or other factors.

If you and your partner are shown to be carriers for any of these conditions, then genetic counselling is recommended so more information can be provided, and you are fully aware in details of all options and potential impacts on your situation. If you undertake the Myriad Foresight Expanded Carrier Screen, genetic counselling is included in the cost of the test for both before and after the. Counselling can be accessed by contacting Myriad on 1300COUNSYL.

Genomic Diagnostics has a partnership with Myriad Women’s Health, Inc to undertake the Foresight Expanded Carrier Screen. Your samples and request form will be sent to the Myriad Women’s Health laboratory in California, USA for testing.

Your Reproductive Health Test Journey

Starting a family is an exciting and sometimes confusing time. There are a number of genetic tests you may like to consider during this. Please discuss them with your doctor.

  • Some pregnancies may need further genetic testing based on family history, ultrasound findings or high risk NIPT results.  Talk to your doctor for further information.


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