Inform family planning with Genomic Insight.

Genomic screening for childhood-onset genetic conditions before starting or growing your family

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Each of us is a carrier of a handful of genetic conditions that we are unaware of

Each of us is a carrier of a handful of recessive genetic conditions that we are unaware of. When a carrier conceives a pregnancy with another carrier of the same condition, there is a heightened chance of them having an affected child.

Genomic screening can identify people at an increased reproductive risk of having a child affected by severe childhood-onset genetic conditions. These include X-linked and recessive conditions, which being a carrier of would not usually develop symptoms, but may have an increased reproductive risk.

Reproductive carrier screening helps prospective parents make informed choices on family planning.


Screening Options

Currently in Australia, Medicare Benefit Schedule (MBS) covers reproductive carrier screening for the following three conditions: Fragile X, Cystic Fibrosis (CF), and Spinal Muscular Atrophy (SMA).

Beyond MBS, expanded reproductive carrier screening is available for hundreds of additional genetic conditions, similar to the one offered by [Mackenzie’s Mission](https://www.mackenziesmission.org.au/) as part of the Australian Genomics Health Futures Mission-funded study a few years ago.

Either MBS-funded 3 gene carrier screening or broader expanded carrier screening can be arranged depending on personal preference.

Feature   MBS-Funded Test   Expanded Screening       Number of Conditions Covered   3   100+     Included Conditions   Fragile X, CF, SMA   Many severe childhood-onset diseases     Cost   Covered by MBS   Self-funding (on request)     Best For   Minimum coverage   Comprehensive planning   

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