Axons to Exons the Molecular Diagnosis of Rare Ne

Authors: Jodi Warman Chardon Chandree Beaulieu Taila Hartley Kym M Boycott David A Dyment

Publish Date: 2015/08/21

Volume: 15, Issue: 9, Pages: 64-

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Abstract

Neurological disorders secondary to single gene mutations are an extremely heterogeneous group of diseases individually rare and often associated with progressive and severe disability Given the degree of both clinical and genetic heterogeneity nextgeneration sequencing NGS has become an important diagnostic tool Multigene panel testing based on NGS is now prominently used while wholeexome sequencing and wholegenome sequencing are emerging to facilitate the molecular diagnosis for many genetic neurological diseases Although singlegene testing remains an important first tier test for disorders with clear phenotypegenotype correlation NGS provides an expanding unbiased approach to identify rare mutations in genes known to be associated with genetically heterogeneous diseases and those not initially considered by the clinician due to rarity or atypical clinical presentation Given the decreasing costs and relatively rapid time to results NGSbased assessment is quickly becoming a standardofcare test for patients with genetic neurological diseases

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