Cardiology
Whole exome sequencing (WES) with in silico gene panel analysis
Clinical Report (Download a sample report here)
~3-6 weeks*
For detailed information about the sample requirements, please consult our clinical sample requirements page.
This is the core panel for Brugada Syndrome. We also offer an expanded panel which includes an additional 11 genes (13 genes in total). See test details for the Brugada Syndrome - Expanded Panel.
Brugada syndrome is an inherited arrhythmia disorder associated with ventricular fibrillation (VF), recurrent syncope (suddenly and temporarily loss of consciousness) and family history of sudden cardiac death (SCD), among other symptoms.
Brugada syndrome occurs worldwide, although it occurs more frequently in people of Asian ancestry. The prevalence of the disease in endemic areas (South Asia) is on the order of 1:2,000 persons. Data from published studies indicate that Brugada syndrome is responsible for 4-12% of unexpected sudden deaths and for up to 20% of all sudden death in individuals with an apparently normal heart.
In most instances, Brugada syndrome is inherited in an autosomal dominant manner, which means that a child of an individual with Brugada Syndrome has a 50% chance of inheriting the pathogenic variant. Although Brugada syndrome is more prevalent among males, it affects females as well. A variant in SCN5A is identified in around 30% of the cases of Brugada Syndrome.
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