Article
Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2013
Ingles Jodie, Sarina Tanya, Yeates Laura, Hunt Lauren, Macciocca Ivan, McCormack Louise, Winship Ingrid, McGaughran Julie, Atherton John, Semsarian Christopher
Abstract excerpt
PURPOSE: Genetic testing for hypertrophic cardiomyopathy has been commercially available for almost a decade; however, low mutation detection rate and cost have hindered uptake. This study sought to identify clinical variables that can predict probands with hypertrophic cardiomyopathy in whom a pathogenic mutation will be identified. METHODS: Probands attending specialized cardiac genetic clinics across Australia...
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