Clinician information

Expanded Genetic Carrier Screening information

Our Expanded Genetic Carrier Screening offers broad, evidence-based detection for hundreds of inherited conditions.
Test information

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.

How to get tested

Step 1
Doctor referral

Talk to your GP about your options, and request a Carrier Screening test.

Step 2
Sample collection

Visit a Healius Pathology collection centre to get your blood collected.

Step 3
Results discussion

Your doctor will discuss  any relevant findings and advise genetic counselling if necessary.

Frequently asked questions

What are the genetic counselling options for my patients?
Is the Natera Horizon test bulk-billed?

Resources

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.