Short QT Syndrome Panel
A 4-gene panel for assessing hereditary short QT syndrome, powered by the Helix Exome+® platform for precise arrhythmia variant detection.
6-21 days
≤ 5 days
Panel Description
Channelopathies are a broad spectrum of arrhythmogenic and electrophysiological disorders affecting heart ion channels. There are many different causes of channelopathies, which range from environmental exposures, such as medications, to inherited genetic risk factors. In cases where an external cause is not identified, or a family history is suspicious of a hereditary risk of channelopathy, diagnostic genetic testing may be ordered.
This panel evaluates 4 genes that have an established, primary association with hereditary short QT syndrome.
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Indications for Testing
Providing a genetic evaluation for individuals with a personal and/or family history suggestive of a hereditary form of short QT syndrome. Establishing a diagnosis of short QT syndrome.
Methodology
This test utilizes next-generation sequencing to detect single nucleotide variants, insertions and deletions up to 20 bp, and copy number variants in 4 genes associated with hereditary forms of short QT syndrome.
Technical Specifications
> 99%
> 99%
> 99%
> 99%
> 90%
KCNH2: Evaluation of Chr7:150958048-150958065 (c.910_916+11del) will be performed. KCNQ1: Evaluation of Chr11:2461715 (c.386+16231G>A), Chr11:2585210-2585211 (c.1033-1_1117dup) will be performed and s...
GRCh38
Genes Tested
Showing 4 of 4 genes in this panel