Why is hypertrophic cardiomyopathy particularly amenable to using sequencing for diagnosis or to determine treatment?
Hypertrophic cardiomyopathy represents an example of how mutations in a number of different genes lead to a shared clinical presentation. And the question is, how do you search for those mutations when [there are multiple] genes that need to be examined to do a comprehensive diagnostic? With hypertrophic cardiomyopathy, there are 10 or more genes that we need to examine for a comprehensive diagnostic. So the question becomes how to approach that technically, and that’s where the advent of next-generation sequencing looks promising from the standpoint of the lower sequencing costs per base and the ability to put on the sequencing instrument a sequencing library that’s comprised of 10 or so genes in a single sequencing lane or single sequencing plate. So the idea is to have a multi-gene sequencing panel for hypertrophic cardiomyopathy that will be used as a tool to assist in determining in patients with a hypertrophic heart whether or not that is due to pathological mutations in the gene
