Methodology and Limitations of Cardiac Genetic Testing
This test is performed using next generation sequencing methodology for genetic profiling of 56 genes associated with cardiac conditions. Total genomic DNA is extracted from biological samples using an automated magnetic bead-based extraction method. DNA quality and quantity is assessed using real-time PCR. All library preparation and sequencing is conducted on an integrated sequencer. The sequencing chip detects alleles, including targeted variants with known clinical significance at overall analytical accuracy and specificity >9%. Variants in this panel are not FDA approved. Variants are classified following recent guidelines of American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
