For people living with inherited muscle diseases like muscular dystrophies, getting a diagnosis can take years — or never happen at all. A new world-first test developed by researchers at the Garvan Institute of Medical Research in Australia is changing that. Published in Nature Communications, the test uses long-read "nanopore" sequencing technology to screen more than 300 genes linked to inherited muscle disease in a single experiment, detecting the full spectrum of genetic changes that standard tests routinely miss.

In a study of 53 Australians with known or suspected inherited muscle disease, over a third of the 31 previously unsolved cases received a confirmed diagnosis — after an average of 14 years without answers. For some, the test identified gene variants no Australian clinical test currently looks for; for others, it corrected a prior misdiagnosis. The team is now working to bring the test into routine clinical care through NSW Health Pathology, with availability across Australia estimated within two years.

By the Numbers

• 53 patients tested; 31 had previously unresolved cases
• Over a third of unsolved cases received a new diagnosis
• 14 years: average time patients had been searching for answers
• 300+ genes screened in a single test
• ~2 years until estimated nationwide availability in Australia

Why it matters: A confirmed genetic diagnosis unlocks access to disability support, targeted monitoring, clinical trial eligibility, and better family counselling — doors that stay firmly shut without one. The researchers also note the technology is "disease-agnostic," meaning this approach could be adapted for many other rare inherited conditions beyond muscle disease.