Long QT Syndrome (LQTS) - Expanded Panel

Overview

Test Name

Long QT Syndrome (LQTS) - Expanded Panel

Test Code

CAE1014

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

Panel Content

AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRDN

Mitochondrial Genome Included In The Analysis

Deliverables

Clinical Report (Download a sample report here)

Turnaround Time

~3-6 weeks*

Specimen Requirements

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

Alternative Panels Available

This is the expanded panel for Long QT Syndrome (LQTS). We also offer a core panel which includes 6 less genes genes (11 genes in total). See test details for the Long QT Syndrome (LQTS)- Core Panel.

*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 are associated with tachyarrhythmias, most typically the ventricular tachycardia torsade de pointes (TdP).

The prevalence of LQTS is estimated to be 1 in 2,500 and occurs across all ethnic groups.

Approximately 75% of LQTS cases are caused by pathogenic variants in one of 17 known genes, most frequently with autosomal dominant inheritance, though there are also recessive forms.