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Article

Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results.

Heart rhythm - 1 Jul 2006

Tester David J, Cronk Lisa B, Carr Janet L, Schulz Vincent, Salisbury Benjamin A, Judson Richard S, Ackerman Michael J

Abstract excerpt

BACKGROUND: Genetic testing for congenital long QT syndrome (LQTS) has been performed in research laboratories for the past decade. Approximately 75% of patients with high clinical probability for LQTS have a mutation in one of five LQTS-causing cardiac channel genes. Possible explanations for the remaining genotype-negative cases include LQTS mimickers, novel LQTS-causing genes, unexplored regions of the known...

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Source

Identifiers

PMID: 16818214
DOI: 10.1016/j.hrthm.2006.03.016

Genes

KCNQ1
KCNH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results.PMID 16818214Read ↗

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