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
  • 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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Genome-wide methylation array

Methylation profiling provides a tumor-specific signature that can be used to establish and clarify the diagnosis of CNS tumors and serves as an important complement to sequencing or chromosomal microarray results. Methylation profiling has been recognized as a molecular biomarker for CNS tumors by the 2021 5th World Health Organization (WHO) Classification and has been recommended as an ancillary tool to assist in diagnosis for tumor types that can be substratified by methylation, and on diagnostically difficult cases.

Research has shown that methylation analysis of CNS tumors could change the diagnosis in up to 12% of cases.⁵

Our first-in-class, clinical genome-wide DNA methylation array provides the methylation profile and MGMT promoter methylation status of CNS tumors through the use of the Illumina Infinium MethylationEPIC v2.0 combined with the National Institutes of Health-developed, AI-powered CNS tumor classifier algorithm v.2.0, the Mayo Clinic-developed nearest-neighbors assisted unsupervised analysis (NN method), and the open-source mgmtstp27 R package.

The NIH-developed, proprietary NCI/Bethesda Central Nervous System (CNS) Tumor Classifier v2.0 algorithm generates tumor classification at family and class levels based on its unique epigenetic signature. This signature reflects the tumor’s cell of origin as well as acquired methylation changes, and is a powerful tumor classification tool. By comparing tumor methylation patterns against large, validated reference datasets, this approach can resolve diagnostically difficult cases and uncover clinically meaningful entities that may not be apparent using conventional methods alone.

Key testing

• MTNON | Neuro-Oncology Genome-Wide Methylation Array Analysis, Tumor
  • Provides methylation profile and MGMT promoter methylation status in primary tumors and a subset of metastatic CNS tumors.
  • Aligns with integrated diagnosis recommendations from the 2021 5th WHO Classification of CNS Tumors.
  • Enables definitive diagnosis of epigenetically defined 2021 CNS tumor types, such as high-grade astrocytoma with piloid features.
  • Provides clinically actionable subclassification of key CNS tumor types, such as ependymoma, medulloblastoma, and diffuse pediatric-type high-grade gliomas.
  • Clarifies ambiguous diagnosis and reduces diagnostic uncertainty in cases where sequencing and chromosomal microarray results are inconclusive.
  • Reduces tumor misclassification, which could lead to inappropriate therapy.
  • Results include a level of confidence for the predicted classifications, providing diagnostic clarity.

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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
5. Morgan K. Diagnosing Central Nervous System tumors more Precisely with Methylation Marks. National Cancer Institute. NCI-Connect. https://www.cancer.gov/rare-brain-spine-tumor/blog/2022/methylation-marks. Pub. April 2022. Accessed March 2026.