Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory

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• 作者：Hyojin Chae^a ; ^b ; Jiyeon Kim^b ; Gun Dong Lee^a ; ^b ; Woori Jang^a ; ^b ; Joonhong Park^a ; ^b ; Dong Wook Jekarl^a ; ^b ; Yong Seog Oh^c ; ^{oys@catholic.ac.kr} ; Myungshin Kim^a ; ^b ; ^{microkim@catholic.ac.kr} ; Yonggoo Kim^a ; ^b
• 关键词：Long-QT syndrome ; Romano&ndash ; Ward syndrome ; Jervell&ndash ; Lange Nielsen syndrome ; High-throughput nucleotide sequencing
• 刊名：Clinica Chimica Acta
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：464
• 期：Complete
• 页码：128-135
• 全文大小：1124 K
• 卷排序：464

文摘

We developed an NGS-based targeted gene panel for 13 LQTS genes using the Ion PGM platform. The NGS panel showed 100% concordance with Sanger sequencing in the genomic regions covered by the design of the panel. This robust and high-throughput NGS panel and informatics pipeline is suitable for LQTS diagnosis in the clinical testing laboratory.