Short QT Syndrome (SQTS) Panel

Cardiology

Short QT Syndrome (SQTS) Panel

Overview

Test Name
Short QT Syndrome (SQTS) Panel
Test Code
CAE1015
Test Category
Gene Panels
Test Subcategory
Cardiology
Disease(s) Targeted
Short QT Syndrome (SQTS)
Who Is The Test For?
Patients with a family history, clinical suspicion, or diagnosis of Short QT Syndrome (SQTS)
Test Approach

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

No. of Genes
6
Panel Content
CACNA1C, CACNB2, KCNH2, KCNJ2, KCNQ1, SLC4A3
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.

*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 Short QT Syndrome (SQTS)

Short QT syndrome (SQTS) is an inherited cardiac channelopathy characterised by an abnormally short QT interval and increased risk for atrial and ventricular arrhythmias.

Studies suggest a prevalence between 0.02% and 0.1% in adults while in paediatric population the prevalence is 0.05%. Lethal events may occur in both sexes, but a slight male predominance seems to exist.

SQTS is caused by pathogenic variants in the genes that encode proteins that compose ion channels, which are responsible for the currents in the heart. Gain-of-function variants in genes encoding potassium channels (KCNH2, KCNQ1 and KCNJ2) and loss-of-function variants in genes for calcium channels (CACNA1C, CACNB2) are frequently identified. SQTS is inherited in an autosomal dominant manner, such that first-degree family members have a 50% chance of inheriting the disorder.

Gene Panel Workflow

Order a test using our clinical portal

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