Reproductive Carrier Screening

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Carrier screening is genetic testing performed to determine whether individuals or couples have a genetic variant (mutation) that may affect your chance of having a child with a genetic condition.

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. A carrier is someone who has one gene with a Variation (mutation) and one gene that is unaffected. Carriers are typically symptom-free and do not know that they carry a mutation.

The Royal Australian and New Zealand College of Obstetricians & Gynaecologists (RANZCOG) now recommend that information about reproductive carrier screening for common disorders be offered to all women either prior to conception (preferred pathway) or early in pregnancy. Click here for further information. 

Genomic Diagnostics offers two genetic carrier screening test options:

Core Carrier Screen

The Genomic Diagnostics Genetic Carrier Screen tests for three relatively common genetic conditions in general populations: Cystic Fibrosis (CF), Fragile X (FXS), and Spinal Muscular Atrophy (SMA). These conditions were chosen based on their inclusion in local and international genetic screening recommendations for patients considering conception. Please note: this test is not covered by private health insurance or Medicare and costs $345. Refer to ‘Paying for your test’ below for more information around costs.

The Counsyl Foresight Carrier Screen

The Counsyl Foresight Carrier Screen test is an expanded carrier screening panel which screens for 175+ conditions that are important independent of ethnic background. The test can help provide genetic information about dozens of serious, inherited, genetic conditions. Please note: this test is not covered by private health insurance or Medicare and costs $579, which includes local genetic counselling support.

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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 Counsyl Foresight Carrier Screen Test requires a specific request form to be filled in by your doctor, downloadable below.

These tests are not covered by Medicare. If you undertake the Basic Carrier Screen test with us, and found to be a carrier, your partner will be tested by us for free for the specific genetic abnormality. 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. Payment can be made online at our portal. Click here. If you have any concerns please call our Customer Care Team on 1800 822 999. They are available Monday to Friday from 9.00am to 5.00pm.

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

Think of it as an ultrasound for your DNA. Carrier screening is a way to see whether you carry certain gene mutations 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.

 

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Recessive diseases are caused by changes (called mutations) 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 a mutation. 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. 

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

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 Counsyl Foresight Expanded Carrier Screen, genetic counselling is included in the cost of the test for both pre and post test. Pre-test counselling can be accessed through contacting Counsyl on 1300 268 6795. For post-test counselling, carrier patients will be contacted by Counsyl within 48 hours of test results being issued and a follow up letter will be provided by the requesting clinician.

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