Clinical testing panels for ALS: global distribution, consistency, and challenges
Allison Ann Dilliott, Ahmad Al Nasser, Marwa Elnagheeb, Jennifer A. Fifita, Lyndal Henden, Ingrid M. Keseler, Steven Lenz, Heather Marriott, Emily P. McCann, Maysen Mesaros, Sarah Opie-Martin, Emma Owens, Brooke Palus, Justyne E. Ross, Zhanjun Wang, , On behalf of the Amyotrophic lateral sclerosis spectrum disorders Gene Curation Expert Panel
The paper evaluates the variability in ALS clinical genetic testing panels globally, finding inconsistent gene inclusion and potential diagnostic challenges.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · Mar 10, 2023Peer-reviewedGenetic & Genomic Medicine