Genetic testing in neurology exploiting next generation sequencing:state of art
Chiara Di Resta
Maurizio Ferrari
摘要：Next generations sequencing (NGS) is definitely one of the most revolution-ary technology of the last years in genetic and medical field (Kricka and Di Resta, 2013). It brought important changes in genetic testing of inherited human disorders, in particular in neurological Mendelian forms, such as inherited neuropathies, ataxias or monogenic form of epilepsy, where "di-agnostic odyssey" is quite common. This term refers to the single-gene test approach where patients are evaluated by multiple providers, sometimes for years, without a genetic diagnosis (Di Resta et al., 2018). Indeed, in the Sanger sequencing era, neurologists were quite frustrated by the low diag-nostic yield obtained by testing selected candidate genes, also due to the diffculties in differentiating genetic forms from acquired one, having the same clinical manifestations. In this context, clinicians had to pick a can-didate gene to analyze and the gene-by-gene sequencing approach was not economical or effcient (Di Resta et al., 2018).
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论文发表日期：2020-01-01
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：2( 265-266 )