Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.

ABSTRACT: Many neurological conditions are caused by immensely heterogeneous gene mutations. The diagnostic process is often long and complex with most patients undergoing multiple invasive and costly investigations without ever reaching a conclusive molecular diagnosis. The advent of massively parallel, next-generation sequencing promises to revolutionize genetic testing and shorten the 'diagnostic odyssey' for many of these patients. We performed a pilot study using heterogeneous ataxias as a model neurogenetic disorder to assess the introduction of next-generation sequencing into clinical practice. We captured 58 known human ataxia genes followed by Illumina Next-Generation Sequencing in 50 highly heterogeneous patients with ataxia who had been extensively investigated and were refractory to diag

SUBMITTER: Nemeth AH 

PROVIDER: S-EPMC3784284 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature