Long QT Syndrome Panel
A 10-gene panel for evaluating hereditary long QT syndrome, powered by the Helix Exome+® platform for comprehensive arrhythmia risk assessment.
Turnaround
6-21 days
Requery (SOQO)
≤ 5 days
Genes Tested
10
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 hereditary long QT syndrome. Establishing a diagnosis of long 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 10 genes associated with hereditary forms of long 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. TRDN: Evaluation of Chr6:123636725 (c.22+29A>G) will be performed.
Genomic build
GRCh38
Genes Tested
10 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 10 genes that have an established, primary association with hereditary long QT syndrome.
Ready to order this test?
Contact our clinical team to order the Long QT Syndrome Panel for your patients.