HELIX DIAGNOSTICS
Arrhythmogenic Cardiomyopathy Panel
Panel Description
Cardiomyopathies are a broad spectrum of structural and functional disorders of the heart musculature. There are many different causes of cardiomyopathies, 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 cardiomyopathy, diagnostic genetic testing may be ordered.
This panel evaluates 22 genes associated with arrhythmogenic cardiomyopathy, and cardiomyopathy with arrhythmia risk.
Genes Tested (23)
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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.
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 ACM may be asymptomatic, or may be symptomatic with arrhythmias and/or syncope. Hereditary forms of ACM have been seen to follow an autosomal dominant inheritance pattern with the exception of DSC2 and DSG2, which are associated with both autosomal dominant and (rarely) autosomal recessive ACM.
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.