Inherited cardiovascular disease can derive from genetic variants in a wide-range of genes related to cellular depolarization and adhesion, connective or cardiac tissue formation, and heart development. While many cardiovascular abnormalities are visible on an electrocardiogram or imaging diagnostic technologies, genetic testing may be necessary to determine the specific cause of disease and to provide the opportunity for more targeted treatment options as well as the verification of at-risk family members.
Cardiac arrhythmias are a group of disorders characterized by an irregular heartbeat and that can be inherited in an autosomal dominant or autosomal recessive manner. The MNG portfolio of next-generation sequencing panels provides the option for a comprehensive diagnostic approach, with our Hereditary Cardiac Arrhythmia panel, or more focused panels for specific arrhythmia conditions including Brugada Syndrome and Arrhythmogenic Right Ventricular Dysplasia.
Our Comprehensive Cardiomyopathy panel includes a wide-range of genes involved in proper cardiac muscle formation. Because many of the same genes are involved in muscle integrity throughout the body, this panel also intersects heavily with our neuromuscular offerings, particularly our Comprehensive Muscular Dystrophy/Myopathy panel. Both of these panels include mitochondrial DNA sequencing and deletion analysis to improve diagnostic sensitivity. To complement electrocardiographic evidence, MNG also offers a focused Left Ventricular Noncompaction Cardiomyopathy panel.
Congenital heart defects (CHD) are the most common birth defect caused by abnormal formation of the heart during fetal development. Patients can have a range of clinical phenotypes from no signs to severe, life-threatening symptoms. Ventricular septal defect (VSD), atrial septal defects, and tetralogy of Fallot are the most common congenital heart defects. To investigate possible genetic causes of CHD, we offer a dedicated Congenital Heart Defects panel and a more specific offering focused on Heterotaxy Syndromes in which the heart is positioned on the right side of the chest.