BRUGADA SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 26 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Brugada Syndrome panel allows for the analysis of 26 genes associated with this inherited cardiac channelopathy, characterized by ventricular repolarization abnormalities, ST-segment elevation in right precordial leads, and an increased risk of malignant ventricular arrhythmias or sudden death, especially in young adults. Using next-generation sequencing (NGS) with simultaneous detection of point variants (SNVs), insertions/deletions (indels), and copy number variations (CNVs), this panel provides a comprehensive genetic assessment of familial and sporadic forms of the syndrome. The study includes genes involved in the formation and function of sodium, potassium, and calcium channels, as well as in intracellular signaling and the structure of intercellular coupling, essential components for cardiac electrical conduction. Among the most relevant genes are SCN5A —the main cause of familial cases— and other modulators such as CACNA1C, CACNB2, KCND3, PKP2, GPD1L and SCN10A.
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