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 :
| 1st intent | 2nd intent | 3rd intent |
|---|---|---|
| SCN5A | CACNA1C CACNB2 GPD1L KCNE3 SCN1B SCN3B | CACNA2D1 HCN4 KCND3 KCNJ8 PKP2 RANGRF TRPM4 |