Abstract
Over 70 different Charcot-Marie-Tooth disease (CMT)-associated genes have now been discovered and their number is growing. Conventional genetic testing for all CMT genes is cumbersome, expensive, and impractical in an individual patient. Next-generation sequencing (NGS) technology allows cost-effective sequencing of large scale DNA, even entire exome (coding sequences) or whole genome and thus, NGS platform can be employed to effectively target a large number or all CMT-related genes for accurate diagnosis. This overview discusses how NGS can be strategically used for genetic diagnosis in patients with CMT or unexplained neuropathy. A comment is made to combine simple clinical and electrophysiological algorithm to assign patients to major CMT subtypes and then employ NGS to screen for all known mutations in the subtype-specific CMT gene panel.
Original language | English (US) |
---|---|
Pages (from-to) | 383-386 |
Number of pages | 4 |
Journal | Annals of Indian Academy of Neurology |
Volume | 17 |
Issue number | 4 |
DOIs | |
State | Published - Oct 1 2014 |
Keywords
- CMT
- exome
- genetic testing
- genome
- next-generation sequencing
ASJC Scopus subject areas
- Clinical Neurology