Next-generation sequencing
Comprehensive genetic testing to guide patient care
With numerous types of benign and malignant soft tissue and bone tumors that can have overlapping features, diagnosis can be challenging. Using only histological and immunophenotypic features can lead to a high rate of inaccurate diagnoses. Tumor genomic profiling by DNA and RNA sequencing can improve diagnostic accuracy and overall patient management.
Next-generation sequencing test menu
Next-generation DNA and RNA sequencing panel
Our comprehensive, next-generation sequencing (NGS) sarcoma fusion panel interrogates both DNA and RNA to detect mutations and fusions described in more than 100 types of soft tissue and bone tumors. Because gene fusions can involve both known and novel gene partners, this unique assay was designed to include whole transcriptome RNA sequencing to detect gene fusions in 1,445 genes. In addition, the assay utilizes DNA sequencing to detect mutations in 31 genes that are involved in sarcomas. Use of DNA sequencing in conjunction with RNA sequencing aligns with updated guidelines for integrated molecular diagnostic reporting established by the World Health Organization (WHO), National Comprehensive Cancer Network (NCCN), and College of American Pathologists (CAP).1,2,3
Key testing
- MCSRC | MayoComplete Comprehensive Sarcoma Panel, Next-Generation Sequencing, Tumor
- Assists in establishing a diagnosis of more than 100 bone and soft tissue tumors.
- Comprehensive panel evaluation for the presence of somatic gene mutations in 31 genes, and gene fusions in 1,445 genes.
- Can determine both known and novel fusion partners, which can be diagnostically important.
- Aligns with updated guidelines for integrated molecular diagnosis established by the WHO, NCCN, and CAP.
Next-generation targeted RNA sequencing panel
Exclusive to the market, our extensive RNA gene panel uses NGS to interrogate 1,445 genes within the RNA transcriptome for somatic gene fusions. RNA sequencing serves as a crucial complement to DNA-only sequencing, enabling precise and efficient detection of gene fusions that are often diagnostic for tumor type. The design of the assay allows for the detection of novel fusion genes. By incorporating transcriptome regions often missed by standard tests, this assay improves the ability to detect complex or hard-to-identify fusions.
Key testing
- MCRSP | MayoComplete Targeted RNA Sequencing Panel, Next-Generation Sequencing, Tumor
- Evaluates 1,445 genes for somatic gene fusions associated with solid tumors and sarcomas.
- Includes the detection of pathogenic transcript variants in the MET and EGFR genes and internal tandem duplications of the BCOR gene.
- Test results can assist with diagnosis, prognosis, and treatment decisions, including enrollment into clinical trials.
- Especially useful for assisting with accurate soft tissue tumor classification.
- Validated for both FFPE tumor samples and cytology specimens.
Highlights
Learn more about how Mayo Clinic Laboratories approach to whole transcriptome RNA sequencing provides the most comprehensive detection of gene fusions in solid tumors through use of next-generation sequencing to identify fusions in 1,445 genes.
Additional DNA testing
Key testing
References
- Soft Tissue Sarcoma. National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology. Version 1.2025: May 2, 2025. NCCN.org. https://www.nccn.org/professionals/physician_gls/pdf/sarcoma.pdf.
- Bone Cancer. National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology. Version 1. 2026: Sept. 11, 2025. https://www.nccn.org/professionals/physician_gls/pdf/bone.pdf.
- Hiemenz M. Molecular Diagnostics in Sarcoma Pathology. College of American Pathologists. https://www.cap.org/member-resources/articles/molecular-diagnostics-in-sarcoma-pathology. Page Accessed Nov. 19, 2025.
- Schaefer IM, Gronchi A. WHO Pathology: Highlights of the 2020 Sarcoma Update. Surg Oncol Clin N Am. 2022 Jul;31(3):321-340. doi:10.1016/j.soc.2022.03.001. Epub 2022 May 31. PMID: 35715137; PMCID: PMC9216237.