The Comprehensive Genetic Test for Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) utilizes next-generation sequencing (NGS) to examine 21 genes associated with arrhythmogenic cardiomyopathy and myocardial structural disorders. It is a targeted gene panel specifically designed to support accurate diagnosis, risk assessment, and prevention.
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The Comprehensive Genetic Test for Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a targeted genetic test designed to evaluate hereditary causes of arrhythmogenic cardiomyopathy, a disorder affecting the structure and function of the heart muscle. The comprehensive genetic test for arrhythmogenic right ventricular cardiomyopathy (ARVC) includes the analysis of a list of genes, along with selected non-coding variants, enabling a comprehensive assessment of genetic factors associated with arrhythmogenic right ventricular cardiomyopathy (ARVC). It is particularly suitable for individuals with a clinical suspicion or diagnosis of arrhythmogenic right ventricular cardiomyopathy. This condition is characterized by progressive replacement of myocardial tissue with fibrofatty material, leading to electrical instability and an increased risk of life-threatening arrhythmias.
The comprehensive genetic test for arrhythmogenic right ventricular cardiomyopathy (ARVC) includes key genes such as PKP2, DSP, DSG2, DSC2, and TMEM43, which are involved in the structure and function of cardiac desmosomes. These proteins play a critical role in maintaining cell-to-cell adhesion and mechanical integrity of cardiac tissue. Disruption of these structures leads to myocardial cell detachment, degeneration, and replacement with fibrofatty tissue, impairing normal electrical conduction. The comprehensive genetic test for arrhythmogenic right ventricular cardiomyopathy (ARVC) is indicated in individuals presenting with clinical or familial features suggestive of arrhythmogenic cardiomyopathy.
The clinical spectrum of ARVC is broad and includes palpitations, syncope, ventricular tachycardia, and sudden cardiac death, particularly in young individuals and athletes. The disease primarily affects the right ventricle but may also involve the left ventricle. Age at onset and disease severity vary widely, even among members of the same family. Some individuals may remain asymptomatic or not meet established diagnostic criteria despite carrying pathogenic variants. Environmental factors, such as intense physical activity, may influence disease expression and progression. The condition is recognized as a significant cause of sudden cardiac death in individuals under 35 years of age.
The purpose of the comprehensive genetic test for arrhythmogenic right ventricular cardiomyopathy (ARVC) is to identify pathogenic variants associated with ARVC, supporting accurate diagnosis and differentiation from other cardiomyopathies and arrhythmia disorders. Genetic findings contribute to improved understanding of disease mechanisms and support appropriate classification of the condition. The identification of specific genetic alterations assists in risk assessment, prognosis evaluation, and the development of appropriate long-term monitoring strategies.
A higher genetic risk is confirmed when pathogenic mutations are found in genes associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), including PKP2, DSP, and DSG2. A lower risk may be inferred when no mutations are detected, though comprehensive clinical follow-up is still essential. The integration of genetic data with clinical findings and imaging evaluation is critical for precise diagnosis, prognosis, and long-term patient care.
The test is performed in a clinical laboratory accredited to ISO 15189 and certified by CLIA and CAP, ensuring the validity, accuracy and international recognition of the results.
