Cardiology

Arrhythmogenic Right Ventricular Cardiomyopathy Panel

Overview

Test Name

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel

Test Code

CAE1001

Test Category

Gene Panels

Test Subcategory

Cardiology

Disease(s) Targeted

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Who Is The Test For?

Patients with a family history, clinical suspicion, or diagnosis of ARVC.

Test Approach

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

No. of Genes

Panel Content

CDH2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, JUP, LMNA, PKP2, PLN, RYR2, TGFB3, TMEM43

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.

*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 Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Arrhythmogenic right ventricular cardiomyopathy (ARVC) encompasses a group of conditions characterised by right ventricular fibrofatty infiltration, with a predominant arrhythmic presentation. It primarily affects the right ventricle, although the left ventricle is frequently also affected. The prevalence of ARVC is ∼1:2,000 to 1:5,000, depending on geographic location, and it has a slight male predominance.

ARVC is an inherited cardiomyopathy that mainly follows an autosomal dominant pattern of inheritance, which means that a child of an individual with ARVC has a 50% chance of inheriting the pathogenic variant.

Several genes have been reported as causative genes for ARVC, and more than half of patients with ARVC have disease causing variants in genes that encode desmosomal proteins (i.e., DSC2, DSG2, DSP, JUP, and PKP2 ). Desmosomal proteins are essential components of desmosomes, which are specialized cell junctions that provide mechanical strength and tissue integrity to tissues like the heart and skin by linking intermediate filaments.