On Sept. 24, 2026, a world-first test developed by researchers at the Garvan Institute of Medical Research has identified the genetic cause of inherited muscle disease in people who remained without answers after years, sometimes decades, of standard testing.

The Garvan study, published in Nature Communications, outlined the development and application of the test to 53 Australians with known or suspected inherited muscle disease, including 31 whose previous genetic testing had failed to identify a cause. Over a third of those unsolved cases received a diagnosis through the new test. On average, these participants had been living without answers to their symptoms for 14 years.

Inherited muscle diseases, which include muscular dystrophies, affect an estimated 6,000 Australians. They gradually weaken and waste the muscles, often robbing people of the ability to walk, swallow, speak clearly or use their hands. They can begin in childhood or adulthood, worsen over time, and there are currently no cures.

The new test uses long-read ‘nanopore’ sequencing, a newer technology that reads much longer stretches of DNA than standard methods and can pick up complex genetic changes that older tests routinely miss. In a single experiment, it screens more than 300 genes known to cause inherited muscle disease and detects the full range of DNA changes behind them.

The team is now working with NSW Health Pathology’s Molecular Medicine Laboratory at Concord Hospital to bring the test into routine care. The researchers estimate it could be available across Australia within about two years. While the study focused on muscle disease, the same test approach could be applied to other rare inherited conditions.