Article
Clinical testing panels for ALS: global distribution, consistency, and challenges.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Aug 2023
Dilliott Allison A, Al Nasser Ahmad, Elnagheeb Marwa, Fifita Jennifer, Henden Lyndal, Keseler Ingrid M, Lenz Steven, Marriott Heather, Mccann Emily, Mesaros Maysen, Opie-Martin Sarah, Owens Emma, Palus Brooke, Ross Justyne, Wang Zhanjun, White Hannah, Al-Chalabi Ammar, Andersen Peter M, Benatar Michael, Blair Ian, Cooper-Knock Johnathan, Harrington Elizabeth A, Heckmann Jeannine, Landers John, Moreno Cristiane, Nel Melissa, Rampersaud Evadnie, Roggenbuck Jennifer, Rouleau Guy, Traynor Bryan, Van Blitterswijk Marka, Van Rheenen Wouter, Veldink Jan, Weishaupt Jochen, Drury Luke, Harms Matthew B, Farhan Sali M K
Abstract excerpt
Objective: In 2021, the Clinical Genome Resource (ClinGen) amyotrophic lateral sclerosis (ALS) spectrum disorders Gene Curation Expert Panel (GCEP) was established to evaluate the strength of evidence for genes previously reported to be associated with ALS. Through this endeavor, we will provide standardized guidance to laboratories on which genes should be included in clinical genetic testing panels for ALS. In...
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