Targeted next-generation sequencing panels in Charcot-Marie-Tooth diagnosis

Takeaway

  • Targeted next-generation sequencing (NGS) panels are a useful tool in the diagnosis of Charcot-Marie-Tooth (CMT), leading to a genetically-confirmed diagnosis in one-third of people who don’t have PMP22 duplication.

Why this matters

  • There are limited data regarding the effectiveness of targeted NGS panels for the genetic diagnosis of CMT in a clinical setting.

  • A relevant part of the CMT genetic landscape is comprised of previously undiagnosed CMT subtypes.