What is the Genetic Carrier Screening test?
Genetic Carrier Screening helps identify if you carry a gene for an inherited condition that could be passed on to your child.
While everyone carries at least one genetic condition, most people are healthy and may not realise they carry a gene or how it could impact their children. Expanded carrier screening typically checks for more than 150 conditions, providing much more insight than standard tests, which usually focus on only three common conditions.
Why should you consider getting tested?
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
Introducing the Natera Horizon expanded carrier screen
At Genomic Diagnostics, we offer the Natera Horizon expanded carrier screen, which can detect over 600 conditions in females and 550 in males. This highly accurate test gives you quality results in just 3-4 weeks from the time your sample is received at the lab.
You can choose to take the test individually or with your partner, based on your needs.
To support you throughout the process, we include free pre- and post-test genetic information sessions, and if you’re at higher risk, we also offer in-depth genetic counselling.
Our dedicated Customer Care Team is available to answer any questions you may have, ensuring you feel supported at every step.
Patients' process
Step 1
Get a doctor's request
Your doctor will discuss genetic carrier screening with you and complete a dedicated request form. Note that free pre-test genetic information sessions are available online.
Step 2
Have a blood test
Medicare and private health insurance do not cover the cost of this test. You will need to purchase your test prior prior to having your blood taken at a local Healius Pathology collection centre. Write your receipt number on the request form.
Step 3
Results consultation with your doctor
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.
FAQ
Why recommend an Expanded carrier screen to your patients?
Genetic Carrier Screening plays a crucial role in identifying individuals or couples at increased risk of having children with serious inherited genetic disorders. By providing this information, you can better guide your patients in making informed reproductive choices. Screening panels vary in scope, from fewer than 10 genes to more than 500.
Why use the Natera Horizon expanded carrier screen?
At Genomic Diagnostics, we’ve partnered with Natera to offer the Horizon expanded carrier screen, which tests for over 600 conditions in females and around 550 in males. This comprehensive screen covers both X-linked and autosomal recessive conditions, including the most common inherited disorders seen in the Australian population.
Key features of the Natera Horizon screen include:
- Comprehensive joint reports for couples, offering clear reproductive risk assessments when one or both partners are carriers
- Free pre-test genetic information sessions for all patients, ensuring informed decision-making
- Free post-test genetic counselling for carrier couples, including specialised support for females with X-linked disorders
- Post-test information sessions at no cost for all other patients
This test is designed to provide unparalleled support for both you and your patients, ensuring a streamlined and informed process at every stage.
Steps
Step 1
Patient Consultation
Discuss carrier screening with your patient as recommended by clinical guidelines and provide a request form.
Step 2
Sample collection
Patient attends a Healius Pathology collection centre to get their blood collected. Patients are required to prepay for their Expanded Carrier Screen before attending and note their receipt number of the request form.
Step 3
Result discussion
Results are delivered to you by encrypted email 3–4 weeks after the sample reaches our laboratory. Free of charge genetic counselling is offered for all high-risk and carrier couples.
FAQ
References
Genomic Diagnostics is an authorized distributor of Natera’s Horizon Test in Australia. The content has not been reviewed by nor endorsed by Natera, Inc. Genomic Diagnostics is solely responsible for maintaining content according to Natera partnership guidelines as well as all legal and regulatory requirements in Australia. CAP accredited, ISO 13485 and CLIA certified. © 2024 Natera, Inc. All Rights Reserved.
