Genome sequencing to diagnose genetic conditions


The Garvan Institute has launched Australia’s first clinical whole-genome sequencing service. This new service will help hundreds of thousands of Australians who currently live with a genetic condition, many of which are rare and challenging to diagnose. It will increase the diagnosis rates of these conditions from around 20 per cent to 40 – 60 per cent. One test will put an end to the long and complicated journey to diagnosis that many families currently endure.

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