The Brugada syndrome (BrS) is a channelopathy characterized by an elevation of the ST segment on the electrocardiogram. Genetic analysis of the BrS focuses primarily on genes encoding for ion channel proteins. Approximately 25% of BrS cases can be explained by the presence of a variant in the SCN5A gene. The MHI Molecular Diagnostic Laboratory reports the SCN5A gene in their first line testing. If no variant is identified, six other genes are then analyzed in second line testing and seven in third line. Collectively,the second and third line genes can explain 3-10% of BrS cases.
PubMed: 21787999, 2011
PubMed: 21459272, 2011
PubMed: 26566530, 2015
Tested Genes :
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