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Despite its extensive scope covering 500+ genes, the Oncogencell workflow transforms just 20 ng of FFPE sample into biomarker insights within a mere three days. Beginning with sample preparation (library creation and/or templating on the Ion Chef System), it allows multiplexing of four samples plus one negative control on the Ion 550 Chip for sequencing on the Ion GeneStudio S5 systems. The resulting sequencing data are then processed through Oncogencell informatics, an efficient bioinformatics tool, converting sequencing results into a detailed biomarker report.
The performance of the Oncogencell Comprehensive Assay Plus was assessed using commercially obtained reference controls and FFPE samples. The results show highly accurate and sensitive detection across all gene variants, with CNV gain and CNV loss exhibiting an outstanding 100% specificity.
Using FusionSync technology, the Oncogencell Comprehensive Assay Plus encompasses over 1300 isoforms with 49 fusion drivers, offering:
Homologous recombination deficiency (HRD) is emerging as a crucial biomarker in precision oncology studies. Typically, homologous recombination errors are corrected through the HRR pathway. However, malfunctions in this pathway, like loss-of-function or harmful mutations in related genes, result in increased genomic instability. The Oncogencell Comprehensive Assay Plus targets 46 essential HRR pathway genes and assesses genomic instability with GIM.
Figure 3. Tumor Mutational Burden (TMB) assessment using Oncogencell Comprehensive Assay Plus. Fig 3A. While Whole Exome Sequencing (WES) is traditionally used for TMB quantification, in-silico comparison with WES was conducted to evaluate the TMB accuracy of Oncogencell Comprehensive Assay Plus. Scatter plots showed a strong correlation between targeted assay (y-axis) and WES (x-axis) mutation counts from TCGA MC33. Fig 3B. In FFPE samples, TMB values obtained with Oncogencell Comprehensive Assay Plus closely align with reference TMB measurements (assay F). Fig 3C. The assay's TMB performance has been independently verified against WES in the Friends of Cancer Research’s TMB Harmonization Studies. 'OCA Plus 5.20' represents data from the 5.20 Ion Reporter analysis workflow.
An NGS Test, or Next Generation Sequencing, is a cutting-edge method for analyzing an individual's genetic material in detail. It sequences millions of DNA strands simultaneously, providing a comprehensive genetic profile far more rapidly and accurately than older methods.
NGS Tests are recommended in diverse scenarios, notably in oncology for identifying cancer mutations, in genetic disorders for detecting inherited conditions, and in infectious diseases for pathogen analysis, offering precise and personalized diagnostic insights.
NGS Testing is versatile in detecting various cancer types, including but not limited to, breast, lung, colorectal, skin (melanoma), and hematological cancers, by identifying specific genetic mutations associated with each type.
NGS Testing can identify a wide range of genetic mutations, including single nucleotide variants, insertions, deletions, copy number variations, and significant structural changes, crucial for understanding diverse genetic disorders and cancers.
The turnaround time for NGS Test results can vary, typically ranging from a few days to a couple of weeks, depending on the complexity of the analysis and specific laboratory workflows involved in the testing process.
NGS Test results are interpreted by specialized bioinformaticians who analyze the complex data, identifying genetic mutations and variations. This analysis is then contextualized for specific applications, like disease diagnosis or treatment planning.
NGS Testing is highly reliable and sensitive, offering precise detection of a wide range of genetic variations. Its accuracy in identifying even minor mutations makes it a trusted method in genetic analysis and clinical diagnostics.
For an NGS Test, a sample such as blood, tissue, or saliva is collected. It undergoes a preparation process where DNA/RNA is extracted and fragmented, followed by adding special adapters for sequencing.
The cost of an NGS Test varies based on the test's complexity. Coverage by insurance differs per policy. For detailed pricing and insurance information, please contact us directly to discuss your specific needs and options.
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