New test identifies the genetic cause of inherited muscle disease

Summary

Researchers at Australia’s Garvan Institute report a long-read nanopore sequencing test that identified genetic causes in more than one-third of 31 study participants whose suspected inherited muscle diseases had remained undiagnosed after earlier testing. The study involved 53 Australians and was published in Nature Communications. By examining more than 300 genes and multiple types of DNA and epigenetic changes in one test, the approach corrected some misdiagnoses and could improve clinical counselling, support access, complication monitoring, and trial enrollment. Routine Australian clinical availability is estimated within two years, pending implementation.