Long QT Syndrome (LQTS) - Core Panel

Cardiology

Long QT Syndrome (LQTS) - Core Panel

Overview

Test Name
Long QT Syndrome (LQTS) - Core Panel
Test Code
CAE1013
Test Category
Gene Panels
Test Subcategory
Cardiology
Disease(s) Targeted
Long QT Syndrome (LQTS)
Who Is The Test For?
Patients with a family history, clinical suspicion, or diagnosis of Long QT Syndrome (LQTS).
Test Approach

Whole exome sequencing (WES) with in silico gene panel analysis

No. of Genes
11
Panel Content
CACNA1C, CALM1, CALM2, CALM3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN5A, TRDN
Mitochondrial Genome Included In The Analysis
No
Deliverables
Turnaround Time

~3-6 weeks*.

Specimen Requirements

For detailed information about the sample requirements, please consult our clinical sample requirements page.

Alternative Panels Available
*Turnaround times are estimated from receipt of satisfactory specimen and test request form at the laboratory to release of clinical report. The turnaround time may vary depending on the nature of the specimen and the complexity of the investigation required. The above table is only a guideline and the complexity of a case and the requirement for further investigations may change this.

About Long QT Syndrome (LQTS)

Long QT syndrome (LQTS) is an inherited heart rhythm problem, characterised by QT prolongation and T wave abnormalities on an ECG that is associated with tachyarrhythmias, most typically the ventricular tachycardia “torsade de pointes” (TdP). LQTS is a panethnic disorder with an estimated prevalence of around 1 in 2,500.

LQTS mainly follows an autosomal dominant pattern of inheritance, though there are also autosomal recessive forms. LQTS associated with biallelic pathogenic variants (in genes associated with autosomal dominant LQTS) or heterozygosity for pathogenic variants in two different genes (i.e., digenic pathogenic variants) is generally associated with a more severe phenotype with longer QTc interval and a higher incidence of cardiac events.

Pathogenic variants in KCNH2, KCNQ1, and SCN5A genes account for 90% of individuals with an identified molecular cause of LQTS. 

Gene Panel Workflow

Order a test using our clinical portal

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