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Article

Repeat long QT syndrome genetic testing of phenotype-positive cases: prevalence and etiology of detection misses.

Heart rhythm - 1 Dec 2012

Medlock Morgan M, Tester David J, Will Melissa L, Bos J Martijn, Ackerman Michael J

Abstract excerpt

BACKGROUND: Approximately 75% of long QT syndrome (LQTS) has been explained genetically through research-based and, more recently, commercial genetic testing. While novel LQTS-susceptibility genes or mutations in unexplored regions of known genes underlie the genetic mechanism for some of the 25% "genotype-negative" remnant, it is likely that some cases represent false-negative test results owing to mutation...

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Source

Identifiers

PMID: 22885918
DOI: 10.1016/j.hrthm.2012.08.010

Genes

KCNH2
KCNQ1

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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