HELIX DIAGNOSTICS
Brugada Syndrome Test
Test Description
Channelopathies are a broad spectrum of arrhythmogenic and electrophysiological disorders affecting heart ion channels. There are many different causes of channelopathies, which range from environmental exposures, such as medications, to inherited genetic risk factors. In cases where an external cause is not identified, or a family history is suspicious of a hereditary risk of channelopathy, diagnostic genetic testing may be ordered.
This test evaluates for Brugada syndrome through analysis of the SCN5A gene.
Genes Tested (1)
Important Test Information
Turnaround time: 7-24 days
Preferred specimen: BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit
Shipping instructions: Specimens to arrive at Helix within 96 hours of collection at ambient temperature.
Brugada syndrome (BrS) is an electrophysiologic disorder of the heart that is characterized by pathognomonic electrocardiogram (ECG) findings. These findings are associated with increased risk for arrhythmogenic events which may result in syncope or, in rare cases, cardiac arrest or sudden death.
Hereditary forms of BrS have been seen to follow an autosomal dominant inheritance pattern.
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.