The comprehensive panel consists of 108 genes that are associated with a variety of structural abnormalities, arrhythmias, and syndromic presentations. Cardiomyopathies often present later in life and may be genetic or related to lifestyle factors or other health issues. Signs and symptoms of dilated cardiomyopathy may include congestive heart failure, fatigue, and shortness of breath. Arrhythmias are also common, and thrombotic events are more prevalent. Individuals with hypertrophic cardiomyopathy may be asymptomatic or exhibit with a wide range of severity, even within the same family. Common features include shortness of breath and chest pain, and these findings can occur at younger ages than dilated forms.
These disorders can be inherited as autosomal recessive, autosomal dominant, X-linked recessive, or X-linked dominant conditions. However, the inheritance pattern for some of these conditions is uncertain, and many of them exhibit incomplete penetrance.
In addition to the comprehensive panel, four subpanels can also be requested for Brugada syndrome (18 genes), Dilated & Arrhythmogenic cardiomyopathies (51 genes), hypertrophic cardiomyopathy (24 genes), and Long QT syndrome (18 genes).