1. Clinical genetic testing in pediatric cardiomyopathy: Is bigger better?
- Author
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G. Manase, Kristen George, A.C. Ouellette, Seema Mital, Ashok Kumar Manickaraj, Jacob Mathew, Judith Wilson, Sarah Bowdin, Leland N. Benson, and Laura Zahavich
- Subjects
0301 basic medicine ,Oncology ,medicine.medical_specialty ,Pediatric cardiomyopathy ,business.industry ,Cardiomyopathy ,030204 cardiovascular system & hematology ,medicine.disease ,03 medical and health sciences ,Single centre ,030104 developmental biology ,0302 clinical medicine ,Unknown Significance ,Internal medicine ,Gene panel ,Genetics ,Clinical genetic ,Medicine ,business ,Genetics (clinical) - Abstract
Background For clinical genetic testing of cardiomyopathy (CMP), current guidelines do not address which gene panels to use: targeted panels specific to a CMP phenotype or expanded (panCMP) panels that include genes associated with multiple phenotypic subtypes. Aim Our objective was to assess the clinical utility of targeted versus panCMP panel testing in pediatric CMPs. Methods 151 pediatric patients with primary hypertrophic (n = 66), dilated (n = 64), restrictive (n = 8), or left-ventricular non-compaction (n = 13) CMP who underwent clinical genetic panel testing at a single centre were included. PanCMP (n = 47) and targeted panel testing (n = 104) were compared for yield of pathogenic variants and variants of unknown significance (VUS). Results Pathogenic variants were identified in 26% of patients, 42% had indeterminate results (only VUS detected), and 32% had negative results. Yield was lower (15%) in panCMP vs. targeted panel testing (32%) (P = .03) in all CMP subtypes. VUS detection was higher with panCMP (87%) than targeted panel testing (30%) (P
- Published
- 2017