Genetic Diagnostic Testing for Inherited Cardiomyopathies: Considerations for Offering Multi-Gene Tests in a Health Care Setting

Publication date: Available online 4 February 2019Source: The Journal of Molecular DiagnosticsAuthor(s): Hussein Daoud, Mahdi Ghani, Landry Nfonsam, Ryan Potter, Shelley Ordorica, Virginia Haslett, Nathaniel Santos, Heather Derksen, Donelda Lahey, Martha McGill, Vanessa Trudel, Brittany Antoniuk, Nasim Vasli, Caitlin Chisholm, Gabrielle Mettler, Elizabeth Sinclair-Bourque, Jean McGowan-Jordan, Amanda Smith, Robert Roberts, Olga JarinovaAbstractInherited cardiomyopathies (ICs) are a major cause of heart disease. Given their marked clinical and genetic heterogeneity, the content and clinical utility of IC multi-gene panels has been the topic of continuous debate. Our genetics diagnostic laboratory has been providing clinical diagnostic testing for ICs since 2012. We began by testing nine genes, and expanded our panel by 5-fold in 2015. Here, we describe the implementation of a cost-effective next-generation sequencing (NGS)-based assay for testing of IC genes, including a protocol that minimizes the amount of Sanger sequencing required to confirm variants identified via NGS, which reduces the cost and time of testing. The NGS assay was developed for the simultaneous analysis of 45 IC genes, and assessed for the impact of panel expansion on variant detection, turn-around-time (TAT), and cost of testing in a cohort of 993 patients. The assay led to a considerable reduction in test cost and TAT. However, only a marginal increase was observed in the diagnostic yield, whereas the ra...
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research

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