Often patients often don’t manage to get an accurate diagnosis in a reasonable time frame, something which can impact on survival and quality of life.

Even patients with a condition diagnosable with existing gene tests typically wait 7 years for diagnosis – EURO-NMD aims to decrease time to diagnosis through implementation of diagnostic guidelines.

Even after extensive testing up to 30% of patients may never receive a confirmed genetic diagnosis through next-generation sequencing EURO-NMD aims to diagnose a further 15% of patients within the 5-year period.