Expanded Genetic Carrier Screening
Genetic carrier screening helps you make informed choices for you and your family
Carrier screening is a type of genetic testing that determines your risk for passing on an inherited genetic condition to your child. All of us are carriers of at least one genetic condition.
Carriers are typically healthy. Most have no family history of the genetic condition they carry, or an understanding of how that condition could impact their child.
Expanded carrier screen looks at >150 different conditions, giving you much more information than a standard genetic screen for the three most common conditions.
Genomic Diagnostics offers you the Natera Horizon expanded carrier screen, which looks at up to 600 different conditions you could be a carrier for.
We offer pre- and post-test genetic information sessions to help support you throughout the testing process along with in-depth counselling sessions for those couples who test as high risk.
Introducing the Natera Horizon expanded carrier screen
Large gene panel - over 600 conditions detected for females, 550 for males
Individual or couple test to suit your circumstances
Pre-test and post-tests genetic information sessions included free of charge
Fast turn around time for results - only 3 - 4 weeks from receipt of sample at laboratory
Quality results - Highly accurate testing for all conditions
Dedicated Customer Care Team to answer all your queries
Steps to get an expanded genetic carrier screen
2. Have a blood test
• Medicare and private health insurance do not cover the cost of testing.
• You will need to pay here for your expanded carrier screen prior to having your blood taken.
• Write your receipt number on the request form. If you are having a couples test write it on your partners form also.
• Visit your local Healius Pathology collection centre to have your blood sample taken.
1. See your doctor to get a request
- Your doctor will discuss genetic carrier screening with you and complete a dedicated request form.
- Free pre-test genetic information sessions are available online.
2. Have a blood test
• Medicare and private health insurance do not cover the cost of testing.
• You will need to pay here for your expanded carrier screen prior to having your blood taken.
• Write your receipt number on the request form. If you are having a couples test write it on your partners form also.
• Visit your local Healius Pathology collection centre to have your blood sample taken.
3. See your doctor to get your results
- Your genetic carrier screen results will be delivered to your doctor within 3 – 4 weeks of your sample arriving at the laboratory.
- If you and your partner are identified as a high-risk or carrier couple, we offer free genetic counselling to support you with your next steps.
- Free post-test genetic information sessions are also available for those who do not fit this criteria
Genetic carrier screening FAQs
Genetic testing is the only way to find out whether or not you are a carrier for one of these conditions.
Knowing your carrier status can help you make informed choices. For many people, genetic carrier screening provides peace of mind. For those with a higher risk of having an affected child, it provides the opportunity to consider a range of options.
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 with in vitro fertilisation (IVF) to test and then transfer embryos that are free of the condition
- the use of a sperm or egg donor
- adoption
The best time to have carrier testing is before pregnancy, if possible. This gives you the widest range of reproductive choices and allows more time to make important decisions. However, testing can still be performed during pregnancy, ideally before 12 weeks.
Genetic carrier screening involves getting a simple blood test at your local Healius Pathology collection centre.
Medicare and private health insurance do not cover the cost of expanded carrier screening.
Medicare will only cover the cost of a genetic carrier screen of the three most common conditions.
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.
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.
When two parents are carriers of the same genetic disease, their children have a 1 in 4 (or 25%) chance of having that disease.
With X-linked conditions, such as fragile X syndrome, only the mother must be a carrier to have an affected child.
Generally, no follow-up testing is suggested for the diseases screened as your carrier status does not change. 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.
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