Brugada syndrome is a genetic disease that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. Approximately 20% of the cases of Brugada syndrome have been shown to be associated with mutations in a gene that encodes for a sodium ion channel in the cell membranes of the muscle cells of the heart (the myocytes). The majority of patients affected by Brugada syndrome are not found to have known genetic mutations to explain the disease. The gene, named SCN5A, is located on the short arm of the third chromosome (3p21). Loss-of-function mutations in this gene lead to a loss of the action potential dome of some epicardial areas of the right ventricle. This results in transmural and epicardial dispersion of repolarization that often results in sudden cardiac death. Brugada syndrome panel is a molecular diagnostic test that screens CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A, and SLMAP genes.
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