Strategies and problems of genetic diagnosis for neurogenetic diseases
LI Xun-hua
CHEN Ding-bang
WU Chao
Abstract：Neurogenetic diseases are difficult to diagnose due to complicated phenotypes.Genetic testing is always the option for final diagnosis.With the progress and update of molecular diagnostic techniques,especially widely usage of next-generation sequencing (NGS),choosing proper sequencing methods is a new challenge.This paper aims to review different strategies and problems of genetic diagnosis for monogenic neurogenetic diseases based on clinical phenotypes,gene mutation characteristics and gene sequencing methodology.
Keywords：Genetic diseasesinbornNervous system diseasesGenesReview
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：7( 477-483 )