Advantages of routine next generation sequencing over standard genetic testing in the ALS clinic.
Jakub ScaberAlexander Guy ThompsonLucy FarrimondEmily FenebergMalcolm ProudfootLynn OssherMartin R TurnerKevin TalbotPublished in: European journal of neurology (2023)
This study provides evidence that expanding genetic testing to all patients with a clinical diagnosis of ALS enhances the potential for recruitment to clinical trials, but will have direct resource implications for genetic counselling.