What are Cardiovascular Disorders?
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.
Cardiovascular Disease Tests We Offer
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. The Brugada Syndrome panel targets genes associated with this relatively common condition affecting roughly 1 in 5,000 people, and is a major cause of sudden adult death syndrome. Our Arrhythmogenic Right Ventricular Dysplasia panel includes testing for genetic changes in genes primarily responsible for the formation of desmosomes, molecular complexes responsible for cell-to-cell adhesion. Errors affecting desmosome formation can lead to the replacement of normal heart tissue with fatty tissue; many of the genes in this panel overlap heavily with our cardiomyopathy testing.
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 these panels include mitochondrial DNA sequencing and deletion analysis to improve diagnostic sensitivity. To complement electrocardiographic evidence, MNG is also proud to offer a focused Left Ventricular Noncompaction Cardiomyopathy panel.
Congenital Heart Defects
Congenital heart defects (CHD) are the most common birth defect, present in nearly 50 million people around the world. Patients with this condition, caused by abnormal formation of the heart during fetal development, can have a range of clinical phenotypes from no symptoms 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.
MNG Laboratories is committed to a patient-centered testing menu, high-quality diagnostics, and first-in-class reporting driven by our Genome MaNaGer® analysis pipeline. Our Neurogenetic Answers™ reporting process helps us stay at the forefront of the evolving genetics field with our regularly-updated NGS panels. Our team-based approach to variant calls ensures we provide actionable results on the pathogenic variants that cause or are likely to cause disease. Our comprehensive approach to diagnostics is accompanied by a team of customer support and scientific personnel available to answer your questions regarding our process, technology, and reports. Please contact us to learn more about how we may serve you and your patients.