Figure 2 | Genetics in Medicine

Figure 2

From: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

Figure 2

Hypertrophic cardiomyopathy (HCM) detection rates and gene contribution. (a) Breakdown of the relative contribution of each gene to all positive cases. For this analysis, only variants classified as pathogenic and likely pathogenic were included. (b) Detection rate for the entire HCM cohort broken down by overall result. (c) Detection rates stratified by year of testing. Detection rates dropped from 38 to 30% and then to 28% over a 9-year period (2004–2013), likely reflecting an evolving referral pattern. NGS, next-generation sequencing; VUS, variant of uncertain significance.

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