Please note that this was recorded in 2017. All AMPEDTM content is reviewed and approved annually by the Training & Education Committee as relevant and accurate, but new data may now be available and new studies may have since been published.
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Description:
Genetic testing for inherited cardiomyopathies has evolved significantly over the last decade. This session will describe the genotypic and phenotypic aspects of cardiomyopathies, including how specific features of the disease can narrow the genetic differential diagnosis. The availability of large sequencing panels for focused diagnostic panels and predictive screening tests, the side effect of variants of uncertain significance, and the need for standardization of variant interpretation will be highlighted.
Phenotype to Genotype: How Traditional Techniques Pave the Way to Targeted Testing and Individualized Medicine
Joseph J. Maleszewski, MD, Mayo Clinic, Rochester, MN, USA
From Genes to Genomes: Evolution of Molecular Testing for Inherited Cardiomyopathies
Birgit Funke, PhD, Veritas Genetics, Danvers, MA, USA
Learning Objectives:
- Examine the basic pathological and genetic aspects of cardiomyopathies.
- Recognize the impact of clinical and genetic heterogeneity on genetic tests.
- Assess the pros and cons of disease focused gene panels versus whole exome sequencing.
Duration: 1.50 hr
Recording Date: November 17, 2017
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