Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

ABSTRACT:

Background

Genetic heterogeneity is common in inherited cardiac diseases. Next-generation sequencing gene panels are therefore suitable for genetic diagnosis. We describe the results of implementation of cardiomyopathy and arrhythmia gene panels in clinical care.

Methods

We present detection rates for variants with unknown (class 3), likely (class 4), and certain (class 5) pathogenicity in cardiogenetic gene panels since their introduction into diagnostics.

Results

In 936 patients tested on the arrhythmia panel, likely pathogenic and pathogenic variants were detected in 8.8% (4.6% class 5; 4.2% class 4), and one or multiple class 3 variants in 34.8%. In 1970 patients tested on the cardiomyopathy panel, likely pathogenic and pathogenic variants were detected in 19.8% (

SUBMITTER: van Lint FHM 

PROVIDER: S-EPMC6533346 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature