Next-generation DNA and RNA sequencing

Our neuro-oncology NGS panel is part of our suite of MayoComplete panels. This robust test includes most abnormalities described by the World Health Organization 2021 Classifications.² It includes a DNA subpanel that assesses alterations in 89 genes and a comprehensive whole transcriptome RNA subpanel that assesses fusions and rearrangements in 1,445 genes, including known abnormal transcript variants in the MET and EGFR genes.

Key testing

• NONCP | Neuro-Oncology Expanded Gene Panel with Rearrangement, Tumor
  • Provides simultaneous evaluations for mutations, microsatellite instability status, rearrangements including gene fusions, and transcript variants.
  • Robust whole transcriptome RNA sequencing detection of gene fusions and transcript variants in 1,445 genes.
  • Can detect both known and novel gene fusions.
  • Identifies somatic mutations and rearrangements that may support diagnosis, prognosis, and tailored therapy for patients with central nervous system tumors.
  • Identifies specific mutations or rearrangements within genes known to be associated with response or resistance to cancer therapies.
  • Aligns with updated guidelines for integrated molecular reporting established by the World Health Organization, the National Comprehensive Cancer Network (NCCN), and the College of American Pathologists (CAP).^2,3,4

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Mayo Complete next-generation RNA sequencing

Our unique-to-the-market, targeted RNA panel uses NGS to evaluate 1,445 genes within the RNA transcriptome for somatic gene fusions. Used as a complement to DNA-only sequencing, RNA sequencing efficiently and accurately detects genetic fusions, including identification of new or unknown fusion partners and fusions with novel breakpoints. By including evaluation of transcriptome areas typically underrepresented in existing testing, this assay offers an enhanced ability to detect challenging 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 including central nervous system tumors, and assists with the diagnosis and management of patients with solid tumors. Includes detection of known abnormal transcript variants in the MET and EGFR and BCOR internal tandem duplications.
  • Can assist with accurate tumor classification, especially for rare or unusual tumors. Test results can guide diagnosis, prognosis, treatment decisions, and support enrollment in clinical trials.
  • Results may support reclassification of identified variants (e.g., from VUS to pathogenic or benign).
  • Can be performed on both FFPE tumor samples and cytology specimens.
  • Aligns with updated guidelines for integrated molecular reporting established by the WHO, NCCN, and CAP.

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Chromosomal microarray

Chromosomal microarray provides high-resolution assessment of copy number variations across the genome. According to published guidelines, when these abnormalities are found in diffuse astrocytic gliomas, IDH wild-type, the tumor should be considered as having molecular features of glioblastoma.² Copy number variations can also further clarify or support diagnosis and provide information useful for prognosis.

Key testing

• CMAPT | Chromosomal Microarray, Tumor, Formalin-Fixed Paraffin-Embedded

Advantages

• Superior analysis of the 1p/19q deletion in gliomas.
• Detects abnormalities, including the gain of chromosome 7, loss of chromosome 10, and EGFR amplification.
• Simultaneously tests for multiple 2021 WHO diagnostic biomarkers, including copy number variants and amplifications.

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MGMT promoter methylation status

MGMT promoter methylation status has prognostic value for glioblastoma patients and can assist in predicting therapeutic response.

Key testing

• MGMTD | MGMT Promoter Methylation Analysis, Tumor
  • Fast turnaround time.
  • Requires small amount of tissue.
  • Prognostication of newly diagnosed patients with glioblastoma.

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Additional DNA testing

Key testing

• BRAFD | BRAF V600E/V600K Somatic Mutation Analysis, Tumor

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References

1. Praska C, Kollmeyer T, Barr Fritcher E, et al. Clinical utility of combined next generation sequencing and chromosomal microarray analysis for the diagnosis and management of adult gliomas. Neuro Oncol. 2020;22(Suppl 2):ii174. doi:10.1093/neuonc/noaa215.725
2. WHO Classification of Tumours Editorial Board, Central nervous system tumours. Lyon (France): International Agency for Research on Cancer, 5th ed., vol. 6, 2021.
3. Brat DJ, Aldape K, Colman H, et al. cIMPACT-NOW update 3: recommended diagnostic criteria for “Diffused astrocytic glioma, IDH-wildtype, with molecular features of glioblastoma, WHO grade IV.” Acta Neuropathol. 2018 Nov;136(5):805-810.
4. Central Nervous System Cancers. National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology. Version 2.2025: Aug. 28, 2025. https://www.nccn.org/professionals/physician_gls/pdf/cns.pdf