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Article

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

Clinica chimica acta; international journal of clinical chemistry - 1 Jan 2017

Chae Hyojin, Kim Jiyeon, Lee Gun Dong, Jang Woori, Park Joonhong, Jekarl Dong Wook, Oh Yong Seog, Kim Myungshin, Kim Yonggoo

Abstract excerpt

BACKGROUND: Congenital long-QT syndrome (LQTS) is a potentially lethal cardiac electrophysiologic disorder characterized by QT interval prolongation and T-wave abnormalities. At least 13 LQTS-associated genes have been reported, but the high cost and low throughput of conventional Sanger sequencing has hampered the multi-gene-based LQTS diagnosis in clinical laboratories. METHODS: We developed an NGS...

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Source

Identifiers

PMID: 27871843
DOI: 10.1016/j.cca.2016.11.013

Genes

KCNH2
KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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