Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Krista Heliö,Marcos Cicerchia,Julie Hathaway,Johanna Tommiska,Johanna Huusko,Inka Saarinen,Lotta Koskinen,Mikko Muona,Ville Kytölä,Janica Djupsjöbacka,Massimiliano Gentile,Pertteli Salmenperä,Tero-Pekka Alastalo,Christian Steinberg,Tiina Heliö,Jussi Paananen,Samuel Myllykangas,Juha Koskenvuo

Frontiers in cardiovascular medicine（2023）

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摘要

Panel testing provides good diagnostic yield in patients with clinically suspected DCM. Causative variants were identified in 45 genes. In minority, two diagnostic variants were observed in dominant genes. Our results support the use of genetic panels in clinical settings in DCM patients with suspected genetic etiology.

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关键词

dilated cardiomyopathy, cardiomyopathy, genetic testing, next generation sequencing, diagnostic yield

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