The odyssey of complex neurogenetic disorders: From undetermined to positive

摘要: The genetic and phenotypic heterogeneity of neurogenetic diseases forces patients their families into a "diagnostic odyssey." An increase in the variability disorders corresponding gene-disease associations suggest need to periodically re-evaluate significance variants undetermined pathogenicity. Here, we report diagnostic clinical utility Targeted Gene Panel Sequencing (TGPS) Whole Exome (WES) 341 with suspected from centers Buenos Aires Cincinnati over last 4 years, focusing on usefulness reinterpreting previously classified as uncertain significance. After mean ±2years (IC 95:0.73-3.27), approximately 30% were reclassified pathogenic. use next generation sequencing methods has facilitated identification both germline mosaic pathogenic variants, expanding yield. These results demonstrate high impact periodic reanalysis neurology.