Comprehensive Tumor Profiling

The Comprehensive Tumor Profiling offers comprehensive genomic profiling for solid tumors using a sequencing (NGS)-based assay that analyzes 484 genes for clinically important alterations at the DNA level. This test interrogates the complete coding regions of 468 genes and the introns of 43 genes for all four types of genomic abnormalities: SNV, InDel, CNV and fusion. These genes are known to be relevant for the diagnosis and/or treatment of various solid tumors according to National Comprehensive Cancer Network (NCCN) Guidelines and the medical literature. The mutation status of some of these genes can guide the potential application of multiple FDA-approved targeted and/or immunotherapies as shown Diseases Tested list. The other genes are also analyzed for their relevance to the diagnosis and/or treatment of various solid tumors according to the medical literature. The report generated provides tailored treatment recommendations for your patients. This test should be used to analyze solid tumors only and has not been optimized for hematological malignancies. The clinical interpretation of detected mutations in those genes is done according to our comprehensive in-house oncology knowledgebase constructed based on public resources including GeneCards, CKB, OncoKB, COSMIC, ClinVar PMC, Drugs@FDA, Drug Information Portal (NIH), Selleck, PharmGKB, DGIdb, DRUGBANK, Drugs.com, ClinicalTrials.gov, ICTRP, ChiCTR, KEGG and Cell Signaling. Limit of Detection (LOD): The LoD of SNV/InDel detection is 1% mutation allele frequency (MAF) for tissue samples (detection rate = 96.6%) and 0.5% MAF for ctDNA samples (detection rate = 100%). The LoD of ERBB2 CNV detection is 20% tumor cell content for tissue samples (detection rate = 100%) and 5% tumor cell content for ctDNA samples (detection rate = 100%). The LoD of ROS1 and ALK fusion detection is 20% tumor cell content for tissue samples (detection rate = 100%) and 1.25% tumor cell content for ctDNA samples (detection rate = 100%).