CARDIAC CANALOPATHIES: CLINICAL EXOME PANEL (Sec. & CNVs) - 41 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Cardiac Channelopathy Panel enables comprehensive analysis of genes involved in inherited electrical disorders of the heart, responsible for sudden cardiac death and malignant arrhythmias without evident structural heart disease. Using next-generation sequencing (NGS) and simultaneous analysis of point variants (SNVs), insertions/deletions (indels), and copy number variations (CNVs), this study identifies mutations in ion channels, associated proteins, and genes that modulate the cardiac action potential. It includes 41 genes related to channelopathy syndromes, such as Long QT Syndrome, Brugada Syndrome, Catecholaminergic Ventricular Tachycardia (CPVT), Short QT Syndrome, and Andersen-Tawil Syndrome. Main genes included: KCNQ1, KCNH2, SCN5A, RYR2, CASQ2, KCNE1, KCNE2, KCND3, CACNA1C, CACNB2, ANK2, CAV3, HCN4, CALM1, CALM2, CALM3, PKP2, PRKAG2, SNTA1, TRDN, among others.
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