HELIX DIAGNOSTICS
Comprehensive Arrhythmias Panel
Panel Description
Channelopathies and cardiomyopathies are broad spectrums of cardiovascular diseases with both overlapping and distinct characteristics. Cardiomyopathies are structural and functional disorders of the heart musculature, and channelopathies are electrophysiological disorders affecting heart ion channels. There are many different causes of these disorders, which range from environmental exposures 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 either a cardiomyopathy or channelopathy, diagnostic genetic testing may be ordered.
This panel evaluates 39 genes associated with arrhythmia, and several syndromic conditions associated with arrhythmia.
Genes Tested (39)
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Important Panel 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.
Long QT syndrome (LQTS) is an electrophysiologic disorder of the heart that is characterized by prolongation of the QT-interval and T-wave abnormalities, as measured by electrocardiogram (ECG). These may manifest as palpitations, seizures, or arrhythmogenic events such as torsade de pointes (TdP) which may result in syncope or, in rare cases, cardiac arrest or sudden death.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an electrophysiologic disorder of the heart which predisposes those affected to develop arrhythmias. While patients with CPVT often have normal resting electrocardiograms (ECGs) and normal heart imaging, both exercise and emotional stress can risk development of arrhythmogenic events (commonly ventricular tachycardia) which may result in syncope or, in rare cases, cardiac arrest or sudden death.
Short QT syndrome (SQTS) is an electrophysiologic disorder of the heart that is characterized by an abnormally short QT-interval, as measured by electrocardiogram (ECG). This can result in abnormal heart rhythms that can cause palpitations, fainting and an increased risk of sudden cardiac death.
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.
Arrhythmogenic cardiomyopathy (ACM) is characterized by fibrofatty infiltration of ventricle musculature which may present as arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC) or arrhythmogenic left ventricular cardiomyopathy/dysplasia (ALVC). These findings are associated with increased risk for ventricular dysfunction, and arrhythmogenic events which may result in syncope or, in rare cases, cardiac arrest or sudden death.
Individuals with LQTS, CPVT, SQTS, BrS, and ACM may be asymptomatic, or may be symptomatic with arrhythmias and syncope. It is important to note that in some cases these heart conditions may be a feature of a larger syndromic condition. Hereditary forms of LQTS, CPVT and ACM may follow autosomal dominant or autosomal recessive inheritance patterns. Hereditary forms of BrS, SQTS 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.