Development and Clinical Validation of OncCNV: A Pipeline for Comprehensive Genome-Wide Analysis of Oncogene Amplifications, Homozygous Deletions, and Biallelic Inactivation of Tumor Suppressor Genes Using the TSO500 Kit

Large-scale tumor molecular profiling has enabled the discovery of novel diagnostic, prognostic, and therapeutic biomarkers, while expanding the clinical utility of known alterations such as gene amplifications (GAMP), homozygous deletions (HMZ-Del), and biallelic inactivation (BI) of tumor suppressor genes. Comprehensive clinical detection of these events is essential for optimal patient management. Illumina’s TSO500 kit detects multiple biomarkers, including GAMP for select genes, but does not assess HMZ-Del or BI events.