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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

Turnaround Requery

≤ 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 10 genes that have an established, primary association with hereditary long QT syndrome.

View the complete description of this panel


Have Questions?

Our team is available Monday through Friday, 9am-5pm Pacific Time.

(844) 211 2070clinicalsupport@helix.com

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 notesKCNH2: 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... Genomic buildGRCh38

Genes Tested

CACNA1C
CALM1
CALM2
CALM3
KCNE1
KCNH2
KCNJ2
KCNQ1
SCN5A
TRDN

Showing 10 of 10 genes in this panel

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Important Panel Information

Turnaround time: Typically 7-21 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.

Long QT syndrome (LQTS) is an electrophysiologic disorder of the heart that is characterized by prolongation of the QT-interval and T-wave abnormalities, as measured by electrocardiogram (ECG). These may manifest as palpitations, seizures, or arrhythmogenic events such as torsade de pointes (TdP) which may result in syncope or, in rare cases, cardiac arrest or sudden death.

Hereditary forms of LQTS may follow autosomal dominant or autosomal recessive inheritance patterns. Note that some of these genes may also be associated with other unrelated conditions; this means that when undergoing this test, there is a possibility of incidentally detecting carrier status for, or predisposition to, one of these unrelated conditions.

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.