HELIX DIAGNOSTICS
Comprehensive 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, and/or a family history is suspicious for hereditary risk, diagnostic genetic testing may be indicated.
This panel evaluates 86 genes that have an established, primary association with cardiomyopathy, and several syndromic conditions of which cardiomyopathy is a feature.
Genes Tested (86)
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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.
Hypertrophic Cardiomyopathy (HCM) is a condition in which the heart muscle becomes abnormally thick. This leads to a decrease in the heart's ability to pump blood effectively. This can cause fatigue, shortness of breath, swelling of the legs, heart rhythm abnormalities and, in severe cases, heart failure or sudden cardiac arrest. Dilated Cardiomyopathy (DCM) is a condition in which the heart chambers become enlarged, weakening the heart muscle. In individuals with left ventricular noncompaction (LVNC), LVNC is characterized by endomyocardial trabeculations which can have variable effects on heart musculature, including ventricular dilation. Individuals with DCM or LVNC may be asymptomatic, or may be symptomatic with arrhythmia, left ventricular dysfunction, thromboembolic disease, and/or life-threatening arrhythmias. 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.
It is important to note that in some cases HCM, DCM, LVNC and ARVC may be a feature of a larger syndromic condition. Hereditary forms of these conditions may follow autosomal dominant, autosomal recessive, X-linked or mitochondrial inheritance patterns. This panel does not assess mitochondrial inheritance. Note that some of these genes may also be associated with other unrelated conditions; this means that when undergoing this test, there is a possibility of incidentally detecting carrier status for, or predisposition to, one of these unrelated conditions.
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.