SOPHiA DDM™ for Cardiovascular Diseases
Getting to the heart of genetic cardiac conditions
The molecular characterization of genetic cardiovascular diseases is often challenging due to significant genetic and clinical heterogeneity. We bring more clarity to variants associated with cardiovascular diseases with our next-generation sequencing (NGS) applications.
Accurate CNV detection
The SOPHiA DDM™ Platform supports the accurate detection of copy number variations (CNVs) at exon-level resolution alongside single nucleotide variants (SNVs) and Indels in a single experiment, facilitating a fast and cost-effective workflow.
Comprehensive variant filtering
NGS sequencing potentially detects thousands of cardiovascular disease-associated variants for interpretation. Virtual Panels, Familial Variant Analysis, and Cascading Filters are user-friendly, time-saving features in the SOPHiA DDM™ Platform that facilitate the prioritization of variants for further analysis.
Clear visualization of variants
Alamut™ Visual Plus is a comprehensive, full genome browser, accessible both through SOPHiA DDM™ and as a stand-alone product. Alamut™ Visual Plus is supported by world-renowned curated databases, guidelines, and splicing predictors, and allows visualization of GRCh37/38 assemblies and the mitochondrial genome, displaying flanking regions and overlapping genes.
Cardio and Extended Cardio Solutions
Quickly and confidently characterize arrhythmias and cardiomyopathies with the SOPHiA DDM Cardio and Extended Cardio Solutions. High-affinity probe design ensures high on-target rate and coverage uniformity, and SOPHiA DDM™ provides 100% sensitivity and reproducibility with high confidence calling of SNVs, Indels, and CNVs.
Accelerate your analysis with cardiovascular disease panels pre-designed, developed, and tested by genomic experts. Our targeted, capture-based NGS Community Panels minimize set-up challenges with the flexibility to add or remove genes to meet your unique requirements.
Our broad range of comprehensive exome applications allow deep exploration of clinical and whole exomes, including the mitochondrial genome. Virtual panels in the SOPHiA DDM™ Platform limit interpretation to a subset of genes for quicker initial screening of variants.
Design and adopt an analytical solution or capture-based target enrichment kit that accurately analyzes genes relevant to your laboratory. Benefit from full consulting and set-up assistance for a fast and worry-free transition to routine variant analysis.
Genetic Cardiovascular Diseases
Cardiac channelopathies / arrhythmias
atrial fibrillation, Brugada syndrome (BRS), cardiac conduction disease, catecholaminergic polymorphic ventricular tachycardia (CPVT), early repolarization syndrome, long QT syndrome, short QT syndrome, sinus node disease (SND)
arrhythmogenic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular non-compaction cardiomyopathy (LVNC), restrictive cardiomyopathy (RCM)
Familial hypercholesterolemia (FH)
Congenital heart disease
Loeys-Dietz syndrome, Marfan syndrome, thoracic aortic aneurysm (TAA) and dissection, vascular Ehlers-Danlos syndrome
Sudden cardiac death or unexplained cardiac arrest
Akgun-Dogan O, Ağaoğlu NB, Demirkol YK, et al. Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1. J Cardiovasc Electrophysiol. 2022;33(2):262-273.
Gourzi P, Pantou MP, Vagenakis G, et al. Genetic predisposition in pediatric acute myocarditis: a pilot study. Eur Heart J. 2021;42(S1): ehab724.3197.
Balla C, De Raffele M, Deserio MA, et al. Left Ventricular Myocardial Noncompaction with Advanced Atrioventricular Conduction Disorder and Ventricular Arrhythmias in a Young Patient: Role of MIB1 Gene. J Cardiovasc Dev Dis. 2021;8(9):109.