Evaluation of a New High-Throughput Next-Generation Sequencing Method Based on a Custom AmpliSeq (TM) Library and Ion Torrent PGM (TM) Sequencing for the Rapid Detection of Genetic Variations in Long QT Syndrome

摘要

Inherited long QT syndrome (LQTS) is a cardiac channelopathy associated with a high risk of sudden death. The prevalence has been estimated at close to 1:2,000. Due to large cohorts to investigate and high rate of private mutations, mutational screening must be performed using an extremely sensitive and specific detection method. Mutational screening is crucial as this may have implications for therapy and management of LQTS patients.