Next-generation sequencing sarcoma analysis

Comprehensive genetic testing to guide patient care

With numerous types of sarcomas that can have overlapping features, diagnosis can be challenging. Using only histological and immunophenotypic features can lead to a high rate of inaccurate diagnoses.

Published data indicates a substantial number of patients have discordant diagnoses between referring institutions and specialty centers.1 Genetic testing can improve diagnostic accuracy and overall patient management.

Mayo Clinic Laboratories’ comprehensive, next-generation sequencing sarcoma fusion panel includes 169 genes and assesses mutations and fusions described in more than 50 types of soft tissue, bone, and other mesenchymal tumors. Because fusion events can occur between known or novel gene partners, the panel is designed to provide the most comprehensive analysis by including 124 gene fusion pairs, 274 fusion variants, and novel gene partner detection.


Learn more about our full suite of MayoComplete next-generation sequencing panels for hematologic and oncologic conditions.


50+

Sarcoma types


169

Individual genes


124

Known fusion parts


274

Fusion variants


Key testing

MCSRC | MayoComplete Comprehensive Sarcoma Panel, Next-Generation Sequencing, Tumor

  • Assists in establishing a definitive diagnosis of 50+ different bone and soft tissue subtypes.
  • Comprehensive panel evaluation of 169 genes for the presence of somatic gene mutations, fusions, and rearrangements.
  • Robust fusion assessment can determine both known and novel fusion partners, which can be diagnostically important.

Additional testing

Beyond the test result

Because testing is complex and selecting the right assay can be challenging, our team of board-certified geneticists and genetic counselors are available to assist in test selection and results interpretation.

Learn more about how to order this evaluation at your institution.


References

  1. Eckardt M., Graham D., Singh A., et al. Pathologic discordance in sarcomas: Prospective comparison of external and sarcoma center pathologic diagnosis. 2019. Journal of Clinical Oncology, 37(15_suppl), 11020–11020. https://doi.org/10.1200/JCO.2019.37.15_suppl.11020