GLOBAL CARDIOVASCULAR DISEASES: CLINICAL EXOME PANEL (Sec. & CNVs) – 797 genes

The Global Cardiovascular Disease Panel offers a comprehensive analysis of 797 genes associated with major inherited cardiovascular diseases, including cardiomyopathies, channelopathies, aortopathies, familial dyslipidemias, and vascular predisposition syndromes. Using next-generation sequencing (NGS) with simultaneous analysis of point variants (SNVs), insertions/deletions (indels), and copy number variations (CNVs), this study provides a complete molecular assessment of the genetic causes involved in cardiovascular disease. Its clinical coverage ranges from structural cardiomyopathies and rhythm disorders to connective tissue diseases with vascular involvement and metabolic disorders with atherogenic risk. Examples of included genes: FBN1, MYH7, LMNA, TTN, KCNQ1, SCN5A, RYR2, TGFBR1, TGFBR2, LDLR, APOB, PCSK9, LAMP2, GLA, PRKAG2, PKP2, DSP, TNNT2, ACTC1, COL3A1, BAG3, BRAF, SMAD3, among others. You can find out more about the genes included in the panel by contacting Genotica.