FDA-APPROVED ASSAY
Cancer remains one of the most significant global health challenges, requiring precision medicine approaches to improve treatment outcomes. SomatiCheck+, powered by Next-Generation Sequencing (NGS), provides a comprehensive genomic profiling (CGP) solution to identify actionable mutations, enabling oncologists to tailor treatments for cancer patients based on their unique tumor genetics.
This FDA-approved assay (IVD) serves as a companion diagnostic (CDx) to guide the selection of targeted therapies and immunotherapies for patients with solid tumors, in alignment with regulatory-approved drug indications and professional oncology guidelines.
The TSO Comp assay is designed to detect clinically relevant genomic alterations in solid malignancies. It serves two primary functions:
* Determines eligibility for targeted therapies based on genomic biomarkers, as listed in approved drug labeling.
* Example: NTRK1/2/3 fusions → VITRAKVI® (larotrectinib); RETfusions → RETEVMO® (selpercatinib) for Non-Small Cell Lung Cancer (NSCLC).
* Broad genomic variant analysis supports evidence-based treatment decisions beyond CDx claims.
* Helps oncologists understand tumor mutational burden (TMB), DNA/RNA fusion events, and other actionable mutations.
Technology - Next-Generation Sequencing (NGS)
Instrument - Illumina NextSeq 550Dx
Sample Type - Formalin-Fixed Paraffin-Embedded (FFPE) tissue
Analyzed Nucleic Acids - DNA & RNA
Genes Assessed - 517 DNA genes for somatic mutations; 24 RNA genes for fusion detection
Variant Types - Single-Nucleotide Variants (SNVs), Multi-Nucleotide Variants (MNVs), Insertions/Deletions (Indels ≤ 24bp), RNA fusions, EGFR RNA splice variants, Tumor Mutational Burden (TMB)
Turnaround Time - 10 days
Validation - Clinically relevant variants confirmed using orthogonal methods
Genomic profiling is essential for understanding tumor biology and selecting targeted therapies. SomaticCheck+ detects mutations that impact cancer development, progression, and treatment response, including:
- Oncogenic driver mutations (e.g., BRAF V600E, EGFR L858R, KRAS G12C)
- Tumor suppressor alterations (e.g., TP53, PTEN, CDKN2A)
- Fusions & splice variants (e.g., ALK, RET, NTRK fusions)
- Immunotherapy-related biomarkers (e.g., TMB status)
By identifying clinically significant alterations, the SomaticCheck+ test enables precise therapy matching, optimizing patient outcomes through:
- Targeted therapies (e.g., tyrosine kinase inhibitors, BRAF inhibitors).
- Immunotherapy response assessment (e.g., TMB-high tumors).
- Clinical trial eligibility screening.
TMB is a key biomarker for predicting response to immune checkpoint inhibitors. SomaticCheck+ provides a validated TMB score, helping oncologists determine which patients may benefit from immunotherapy, particularly those with high mutation loads.
The TSO Comp Verification Study, conducted by Precheck Health, assessed the analytical performance of the assay across three core validation parameters:
- Objective: Evaluate variant detection accuracy.
- Method: 48 clinical FFPE samples (24 DNA, 24 RNA) analyzed via orthogonal sequencing methods to confirm results.
- Results: High sensitivity and specificity across all variant types.
- Objective: Assess test consistency across multiple runs, technicians, and instruments.
- Method: Replicate testing of FFPE samples using different sequencing runs and operators.
- Results: High intra-run and inter-run concordance rates.
- Objective: Define the range of variants reliably detected by the assay.
- Findings: Accurate detection across all targeted 517 DNA genes & 24 RNAfusion genes.
Companion Diagnostic (CDx) - Identifies patients eligible for FDA-approved targeted therapies.
Comprehensive Tumor Profiling - Provides broad genomic insights beyond standard testing.
TMB Calculation - Assists in immunotherapy decision-making.
Multi-Gene Panel (517 DNA + 24 RNA) - Detects SNVs, indels, fusions, and splicing variants in a single test.
High Sensitivity & Specificity - Verified against orthogonal sequencing methods.
Fast Turnaround Time (10 days) - Enables rapid, evidence-based treatment decisions.
The SomaticCheck+ test represents a break through in precision oncology, offering oncologists a validated,FDA-approved NGS-based approach for identifying actionable mutations across a broad range of solid tumors. By integrating tumor genomic profiling into clinical workflows, oncologists can enhance treatment selection, therapy personalization, and patient outcomes.
✅ FDA-approved & clinically validated
✅ Covers 517 DNA & 24 RNA fusion genes
✅ Identifies key biomarkers for targeted therapies & immunotherapy
✅ Provides critical TMB scoring for immunotherapy response assessment
✅ Fast turnaround (10 days) for rapid clinical decision-making
1. Stransky N, Cerami E, Schalm S, Kim JL, Lengauer C. The landscape of kinase fusions in cancer. Nat Commun. 2014;5:4846. doi:10.1038/ncomms5846.
2. Boland GM, Piha-Paul SA, Subbiah V, et al. Clinical next generation sequencing to identify actionable aberrations in a phase I program. Oncotarget. 2015;6(24):20099-20110. doi:10.18632/oncotarget.4040
3. Massard C, Michiels S, Ferté C, et al. High-Throughput Genomics and Clinical Outcome in Hard-to-Treat Advanced Cancers: Results of the MOSCATO 01 Trial. Cancer Discov. 2017;7(6):586-595. doi:10.1158/2159-8290.CD-16-1396.
4. Harris MH, DuBois SG, Glade Bender JL, et al. Multicenter Feasibility Study of Tumor Molecular Profiling to Inform Therapeutic Decisions in Advanced Pediatric Solid Tumors: The Individualized Cancer Therapy (iCat) Study. JAMA Oncol. 2016;2(5):608-615. doi:10.1001/jamaoncol.2015.5689
5. Parsons DW, Roy A, Yang Y, et al. Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. JAMA Oncol. 2016;2(5):616-624. doi:10.1001/
jamaoncol.2015.5699
6. Zehir A, Benayed R, Shah RH, et al. Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. Nat Med. 2017;23(6):703-713. doi:10.1038/nm.4333
7. Tray N, Weber JS, Adams S. Predictive Biomarkers for Check-point Immunotherapy: Current Status and Challenges for Clinical Application. Cancer Immunol Res. 2018;6(10):1122-1128. doi:10.1158/2326-6066.CIR-18-0214
8. Samstein RM, Lee CH, Shoushtari AN, et al. Tumor mutational load predicts survival after immunotherapy across multiple cancer types. Nat Genet. 2019;51(2):202-206. doi:10.1038/s41588-018-0312-8
9. U.S. Food & Drug Administration. FDA Approves First-Line Immunotherapy for Patients with MSI-H/dMMR Metastatic Col-orectal Cancer. fda.gov/news-events/press-announcements/fda-approves-first-line-immunotherapy-patients-msi-hdmmr-metastatic-colorectal-cancer. Published 2020. Accessed March 30, 2022.
10. U.S. Food & Drug Administration. FDA approves pembrolizumab for adults and children with TMB-H solid tumors. fda.gov/drugs/drug-approvals-and-databases/fda-approves-pembrolizum-ab-adults-and-children-tmb-h-solid-tumors. Published 2020. Accessed March 30, 2022.
11. Illumina. TruSight Oncology UMI Reagents technical note. illumina.com/content/dam/illumina-marketing/documents/products/ datasheets/trusight-oncology-umi-reagents-datasheet-1000000050425.pdf. Published 2018. Accessed March 30, 2022.
12. Pierian. Genomic Knowledgebase. pieriandx.com/genomic-knowledge base. Accessed March 30, 2022.
13. Illumina. Analysis of TMB and MSI Status with TruSight Oncology 500. illumina.com/content/dam/illumina-marketing/ documents/products/appnotes/trusight-oncology-500-tmb-analysis-1170-2018-009.pdf. Published 2018. Accessed March 30, 2022.
14. Beroukhim R, Mermel CH, Porter D, et al. The landscape of somatic copy-number alteration across human cancers. Nature. 2010;463(7283):899-905. doi:10.1038/nature08822
15. Green MR, Vicente-Dueñas C, Romero-Camarero I, et al. Transient expression of Bcl6 is sufficient for oncogenic function and induction of mature B-cell lymphoma. Nat Commun.2014;5:3904. doi:10.1038/ncomms4904
16. Piskol R, Ramaswami G, Li JB. Reliable identification of genomic variants from RNA-seq data. Am J Hum Genet. 2013;93(4):641-651. doi:10.1016/j.ajhg.2013.08.008
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