A ventricular arrhythmia is an abnormality in heart rhythm that occurs in the ventricles of the heart. These arrhythmias involve irregular or out-of-sync beats of the ventricles, the two lower chambers of the heart responsible for pumping blood to the rest of the body. Ventricular arrhythmias can vary in severity, from mild forms that cause only a throbbing sensation in the heart to more severe forms that can lead to serious complications, such as sudden death.

43 genes

1.5-5% general population

Multi-gene panel aimed at the molecular diagnosis of ventricular arrhythmias that may cause ventricular arrhythmias and sudden death as the first clinical manifestation. Included are genes associated with channelopathies and certain myocardiopathies, which may lead to the manifestation of ventricular arrhythmias at a very early stage of the disease when structural alterations may be minimal or absent, and the diagnosis of cardiomyopathy may not yet have been made.

Method: NGS sequencing, determination of SNVs (Single Nucleotide Variants), small insertions and deletions and CNVs (Copy Number Variants).

Limits: The test is unable to determine the presence of underrepresented somatic events, balanced chromosomal rearrangements, nucleotide expansion events of repeat regions, CNVs <3 contiguous exons. <3 esoni contigui.

Some genes may have low coverage areas, where necessary or upon specific request, within the limits of methodological limitations, sequencing can be completed with alternative methods (Sanger).

Some genes may be duplicated in the genome (pseudogenes), which may invalidate the analysis. 

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