Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

Abstract Background Genetic testing in hypertrophic cardiomyopathy (HCM) is a published guideline-based recommendation. The diagnostic yield of genetic testing and corresponding HCM-associated genes have been largely documented by single center studies and carefully selected patient cohorts. Our goa...

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Bibliographic Details
Main Authors: Julie Hathaway, Krista Heliö, Inka Saarinen, Jonna Tallila, Eija H. Seppälä, Sari Tuupanen, Hannu Turpeinen, Tiia Kangas-Kontio, Jennifer Schleit, Johanna Tommiska, Ville Kytölä, Miko Valori, Mikko Muona, Johanna Sistonen, Massimiliano Gentile, Pertteli Salmenperä, Samuel Myllykangas, Jussi Paananen, Tero-Pekka Alastalo, Tiina Heliö, Juha Koskenvuo
Format: Article
Language:English
Published: BMC 2021-03-01
Series:BMC Cardiovascular Disorders
Subjects:
Hypertrophic cardiomyopathy
Genetic testing
Next generation sequencing
Diagnosis
Counseling
Online Access:https://doi.org/10.1186/s12872-021-01927-5

Internet

https://doi.org/10.1186/s12872-021-01927-5

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