Fig. 1: Hypertrophic cardiomyopathy cohort and gene panels. | Genetics in Medicine

Fig. 1: Hypertrophic cardiomyopathy cohort and gene panels.

From: Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center

Fig. 1

a Adoption of Sanger sequencing and next-generation sequencing (NGS) assays from 1998–2016, alongside the number of probands tested on each panel included in the study. The total number of genetic tests performed each year on hypertrophic cardiomyopathy (HCM) probands and their family members is also displayed (red line). The “8 validated sarcomeric genes” were MYH7, MYBPC3, TNNT2, TPM1, MYL2, MYL3, TNNI3, and ACTC1. Details of the 48 genes associated with HCM and targeted by the Pan Cardiomyopathy Panel are available in Supplementary Table S1 online. b Referring centers of origin for the HCM probands sequenced with NGS panels (n = 613) from 2013 onwards.

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