High-throughput sequencing technology is now available that can produce high coverage (30×) genomes for $1000.00 ( ). Currently, WES is less expensive than WGS, but that is rapidly changing. 9 Like panel-based testing, WES may necessitate recapture and resequencing as genome annotation continues. 7, 8 WES arrays are regularly updated to reflect changes in the annotation of the coding region of the genome. This capture step is limited by oligonucleotide design and may be incomplete because of uneven exon capture caused by GC bias, off-target sequencing, and omission of noncanonical transcripts, all especially important in the heart. WES interrogates only the coding sequence and relies on an exon capture step. 6 Options include whole exome sequencing (WES) and whole genome sequencing (WGS). Massively parallel, next generation sequencing is now being transitioned into the clinical arena. 5 Concomitant with panel expansion, sensitivity for mutation identification has increased. The first gene panel for cardiomyopathy, introduced in 2007, sampled only 5 genes, whereas current panels assess >50 different genes. 1 – 4 Currently, clinical genetic testing for cardiomyopathy relies on screening the coding region of multiple genes simultaneously as a gene panel. Specific gene mutations may suggest a greater risk of arrhythmias, rapid course, and importantly gene positive individuals with early signs of cardiomyopathy may benefit from early treatment. Genetic testing for cardiomyopathy is a useful adjunct for diagnosis as it is positioned to provide prognostic information for individuals and families. Inherited cardiomyopathy is genetically diverse and has been linked to mutations that are rare in the general population. Customer Service and Ordering Information.Stroke: Vascular and Interventional Neurology.Journal of the American Heart Association (JAHA).Circ: Cardiovascular Quality & Outcomes.Arteriosclerosis, Thrombosis, and Vascular Biology (ATVB).
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