Validation And Implementation Of A Custom Panel Using Capture-based Target Enrichment For Hereditary Cancer Testing: A Ring Study Amongst Three Ontario Genetics Laboratories


OH/CCO recently launched a program with the goal of standardizing comprehensive hereditary cancer testing across Ontario. This includes a standardized gene list for all Clinical Diagnostics Laboratories performing this testing across the province, which has required the update of many existing NGS panels to add new genes. Three Ontario Genetics laboratories (CHEO, Kingston Health Sciences Center and Hamilton Health Sciences), previously using Roche SeqCap custom designed NGS panels, are now working together to share the design and validation of a new panel based on KAPA HyperCap Target Enrichment technology. This presentation will compare and contrast the results from the validation of this panel across the three laboratories and specifically evaluate the performance of the newly designed NGS hereditary cancer panel to detect copy number variants (CNVs) and other complex variants with a high-degree of accuracy.


Amanda Smith, PhD, DABMGG, FCCMG
Clinical Molecular Geneticist, CHEO
Assistant Professor of Pathology and Laboratory Medicine, University of Ottawa