Genetic Disorders

Genetic Testing Requires NGS and Sanger Methodologies

Authors:

Abstract

Investigators from the EuroEPINOMICS rare epilepsy syndromes Dravet working group performed whole-exome sequencing on 31 trios that had been reported negative for SCN1A mutations by Sanger sequencing.

Keywords:

NGSSangerSCN1A
  • Page/Article: 36
  • DOI: 10.15844/pedneurbriefs-30-9-1
  • Submitted on 2 Sep 2016
  • Accepted on 10 Sep 2016
  • Published on 13 Sep 2016
  • Peer Reviewed