Brugada Syndrome Panel
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چکیده
Test code: CA0901 The Blueprint Genetics Brugada Syndrome Panel is an 11-gene test for genetic diagnostics of patients with clinical diagnosis of suspicion of Brugada syndrome. Brugada syndrome has autosomal dominant pattern of inheritance. Genetic diagnosis can confirm clinical diagnosis and patient’s arrhythmia mechanism. Test results can also guide risk assessment and treatment strategies. It can also help in risk assessment of asymptomatic family members of a proband. The Brugada Syndrome Panel is included in the Arrhythmia Panel and Comprehensive Cardiology Panel.
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Brugada Syndrome Panel
Test code: CA0901 The Blueprint Genetics Brugada Syndrome Panel is an 11-gene test for genetic diagnostics of patients with clinical diagnosis of suspicion of Brugada syndrome. Brugada syndrome has autosomal dominant pattern of inheritance. Genetic diagnosis can confirm clinical diagnosis and patient’s arrhythmia mechanism. Test results can also guide risk assessment and treatment strategies. I...
متن کاملBrugada Syndrome Panel
Test code: CA0901 The Blueprint Genetics Brugada Syndrome Panel is an 11-gene test for genetic diagnostics of patients with clinical diagnosis of suspicion of Brugada syndrome. Brugada syndrome has autosomal dominant pattern of inheritance. Genetic diagnosis can confirm clinical diagnosis and patient’s arrhythmia mechanism. Test results can also guide risk assessment and treatment strategies. I...
متن کاملA case of Brugada Syndrome unmasked by a postoperative febrile state
Abstract Background: Brugada Syndrome (BS) is an inherited ion channelopathy characterized by an electrocardiographic (ECG) pattern of a coved type ST segment elevation in right precordial leads with or without right bundle branch block. Case Presentation: A 23-year old male presented with right lower quadrant abdominal pain. Further evaluation revealed a diagnosis of acute appendicitis. The ...
متن کاملPerformance of electrophysiologic study in an asymptomatic patient with type 2 intermittent Brugada syndrome: To do or not to do?
Background: Brugada syndrome (BrS) is an inherited channelopathy, which is associated with sudden cardiac death due to rapid polymorphic VT or VF. There is no definite consensus regarding the management of asymptomatic patients. Some experts advocate close follow-up; others propose the programmed stimulation for risk stratification. We aimed to evaluate the benefit of complete atrial and ventri...
متن کاملUnconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy.
BACKGROUND Mutations in the cardiac sodium channel, SCN5A, have been associated with one type of long-QT syndrome, with isolated cardiac conduction defects and Brugada syndrome. The sodium channelopathies exhibit marked variation in clinical phenotypes. The mechanisms underlying the phenotypical diversity, however, remain unknown. Exonic SCN5A mutations can be detected in 20% of Brugada syndrom...
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