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.
Turnaround
6-21 days
Requery (SOQO)
≤ 5 days
Genes Tested
4
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.
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Contact our clinical team to order this panel or learn more.
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
Analytical sensitivity (SNV)
> 99%
Analytical sensitivity (indel)
> 99%
Analytical specificity
> 99%
CNV sensitivity (multi-exon)
> 99%
CNV sensitivity (single-exon)
> 90%
Gene notes
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 sensitivity in KCNQ1 exon 1 may be reduced.
Genomic build
GRCh38
Genes Tested
4 genes included in this panel
Ordering Information
Turnaround Time
Typically 6-21 days (standard), Typically ≤ 5 days (requery)
Preferred Specimen
BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit
Shipping Instructions
Specimens to arrive at Helix within 96 hours of collection at ambient temperature.
Clinical 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.
Ready to order this test?
Contact our clinical team to order the Short QT Syndrome Panel for your patients.