SOPHiA Cardio Solution

NGS panel enabling the detection of SNV, InDel and CNV variants in 31 genes associated with arrhythmias and cardiomyopathies using hybrid capture technology.

More detailed product information

NGS panel enabling the detection of SNVs, InDels and CNVs in 31 genes associated with arrhythmias and cardiomyopathies. The panel covers the coding regions of the included genes with an overlap of 25 bp into the intronic regions.

Library preparation is based on hybridization capture technology.
The kit is validated for Illumina NGS sequencers.

The solution also includes the unique SOPHiA DDM platform for secondary and tertiary analysis of the resulting NGS data, which enables:

Dual Variant Pre-classification according to ACMG and the SOPHiA algorithm
Creation of virtual panels
Customizable variant filtering and sorting
Trio Familial Variant Analysis
Direct connection to databases, tools and in silico predictors

List of included genes: CACNA1C, CACNA2D1, CACNB2, CASQ2, CTNNA3, DSC2, DSG2, DSP, HCN4, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, MYBPC3, MYH6, MYH7, MYL2, NKX2-5, PKP2, PLN, PRKAG2, RYR2, SCN10A, SCN5A, TMEM43, TNNI3, TNNT2, TRDN, TTR

For more information, please contact us by e-mail: diagnostika@pentagen.cz