INHERITED ARRHYTHMIAS: CLINICAL EXOME PANEL (Sec. & CNVs) – 160 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Hereditary Arrhythmias panel enables the detection of genetic variants responsible for channelopathies and cardiomyopathies associated with heart rhythm disorders, using next-generation sequencing (NGS) of the clinical exome, with simultaneous analysis of single-cell variants (SNVs), insertions/deletions (indels), and copy number variations (CNVs). It includes 160 genes implicated in the main hereditary arrhythmogenic syndromes, such as long QT syndrome, Brugada syndrome, catecholaminergic ventricular tachycardia (CPVT), and familial sudden cardiac death syndromes, as well as genes associated with cardiomyopathies with arrhythmic risk. Top genes included: KCNQ1, KCNH2, SCN5A, RYR2, CASQ2, KCNE1, KCNE2, PKP2, DSP, DSG2, LMNA, DES, TTN, TNNT2, TNNI3, ACTC1, MYH7, PRKAG2, PLN, HCN4, TBX5, NKX2-5, GJA5, JUP, CAV3, TMEM43, BAG3, among others.
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