Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients

Mohamed Z Alimohamed,LennartF Johansson,Anna Posafalvi,Ludolf G Boven,Krista K van Dijk, Lisa Walters,Yvonne J Vos,Helga Westers,Yvonne M Hoedemaekers,Richard J Sinke,Rolf H Sijmons,Birgit Sikkema-Raddatz,Jan D H Jongbloed,Paul A van der Zwaag

International Journal of Cardiology（2021）

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摘要

•In patients referred for clinical genetic testing, a P or LP gene variant was detected in 22.7% of cases•The yield of routine clinical diagnostics of cardiomyopathies was relatively low at 21.5% when compared to literature•The added value of CNV analysis was shown to be limited at 0.1% but not negligible•Daily routine diagnostics include patients not fully fulfilling cardiomyopathy subtype specific criteria

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关键词

Cardiomyopathy,NGS gene panel,Diagnostic yield,CNV

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