6 Apr 2022

Single test identifies 50 genetic diseases

From Nine To Noon, 9:35 am on 6 April 2022
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Photo: Garvan Institute of Medical Research, Sydney

A DNA test has been developed to screen patients for a range of neurological and neuromuscular genetic diseases quicker and more accurately than existing tests.

The technology is able to identify over 50 hard-to-diagnose diseases, including Huntington's disease, muscular dystrophies and fragile X syndrome.

It's hoped the test will end the 'diagnostic odyssey' for patients, which can sometimes take decades.