What is the role of genetic testing in the diagnosis of Brugada syndrome (BrS)?

Updated: Apr 03, 2020
  • Author: Jose M Dizon, MD; Chief Editor: Mikhael F El-Chami, MD  more...
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Answer

Patients with high likelihood of Brugada syndrome may be genetically tested for a mutation in SCN5A, which codes for the alpha subunit Nav 1.5 of the cardiac sodium channel. The results of this test support the clinical diagnosis and are important for the early identification of family members at potential risk. However, the yield of genetic testing remains relatively low at this time, with mutations in SCN5A found in only 11-28% of index cases. [20]


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