Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

Ahmed A AlfaresMelissa A KellyGregory McDermottBirgit H FunkeMatthew S LeboSamantha B BaxterJun ShenHeather M McLaughlinEugene H ClarkLarry J BabbStephanie W CoxSteven R DePalmaCarolyn Y HoJ G SeidmanChristine E SeidmanHeidi L Rehm

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)

Clinical HCM genetic testing provides a definitive molecular diagnosis for many patients and provides cost savings to families. Expanded gene panels have not substantively increased the clinical sensitivity of HCM testing, suggesting major additional causes of HCM still remain to be identified.

Keyphrases

hypertrophic cardiomyopathy
left ventricular
end stage renal disease
newly diagnosed
ejection fraction
squamous cell carcinoma
peritoneal dialysis
radiation therapy
patient reported