Related Experiment Video
Updated: Apr 26, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
The value of cardiac genetic testing
Jodie Ingles1, Christopher Semsarian2
1Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, Australia.
Abstract:
Genetic testing is an important and necessary aspect of the management of families with cardiac genetic conditions. Commercial genetic tests are available for most cardiac genetic diseases, and increasing uptake amongst patients has contributed to a vastly improved knowledge of the genetic basis of these diseases. The incredible advances in genetic technologies have translated to faster, more comprehensive, and inexpensive commercial genetic tests and has completely changed the landscape of commercial genetic testing in recent years. While there are enormous challenges, mostly relating to interpretation of variants, the value of a genetic diagnosis should not be underestimated. In almost all cases, the single greatest utility is for the predictive genetic testing of family members. This review will describe the value of cardiac genetic testing in the current climate of rapid genetic advancements.
Related Concept Videos
Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Dysrhythmias V: Evaluating Dysrhythmias
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Cardiac Catheterization I: Pre-Procedure Overview
Pharmacogenomics: Identification of New Drug Targets

