Transforming the future of neuro-oncology testing
The next evolution in neuro-oncology testing
Learn how an integrated neuro-oncology testing strategy can improve diagnostic confidence. This e-book includes a practical ordering guide, recommended testing workflow, and a real-world case study demonstrating how genome-wide DNA methylation profiling clarified a challenging diagnosis.

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The next evolution of neuro-oncology testing: Clarify diagnosis with precise tumor classification

2021 World Health Organization Classification of Tumors of the CNS, 5th edition guidelines indicate four key molecular biomarkers for histomolecular diagnosis: DNA mutations, RNA fusions when appropriate, copy number abnormalities, and DNA methylation profile. Our approach incorporates all four.

Our approach integrates methylation profiling with next-generation sequencing and chromosomal microarray to reduce uncertainty and classify diagnostically difficult tumors.

Including more than 20 board-certified geneticists specializing in molecular and cytogenic diagnostic testing, our integrated team of clinical, genetic, and laboratory testing experts is available 24/7 to provide expertise and consultative support, removing the guesswork from test selection and results interpretation.
Highlights
Genome-wide methylation profiling is transforming the way clinicians approach brain tumor diagnosis. By analyzing epigenetic patterns across the genome, this advanced testing method provides a new level of precision, helping resolve ambiguous cases, reduce diagnostic variability, and support more confident clinical decision-making in complex CNS tumors.
Learn more about Mayo Clinic Laboratories’ new genome-wide methylation array from the Mayo Clinic neuro-oncology testing experts who worked alongside the National Institutes of Health to develop the innovative, first-in-class assay.
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.
In August of 2021, 28-year-old Mike Knudson, a Twin Cities resident known for his vibrant and active lifestyle, set out on what he anticipated to be an adventurous hiking vacation to the picturesque Glacier National Park in Montana. Little did he know that this journey in nature would be the start of an unexpected life path.
Molecular biomarkers are a critical component in the treatment of adult and pediatric brain tumors. Robert Jenkins, M.D., Ph.D., explains how Mayo Clinic Laboratories' chromosomal microarray provides more comprehensive and accurate tumor analysis compared with other test methods.
Cristiane (Cris) Ida, M.D., explains how Mayo Clinic Laboratories' updated neuro-oncology gene panel provides more clinically relevant information for managing adult and pediatric brain tumors.
As part of Mayo Clinic’s Neuro-Oncology practice, the Division of Laboratory Genetics and Genomics tests about 50 brain tumors a week, and upwards of 1,500 brain tumors a year from all over the world.
As a two-time brain tumor survivor, Alex Kraatz has been through more harrowing medical experiences in his 34 years than most people face in a lifetime. But Alex’s fighting spirit, coupled with precision laboratory testing and cutting-edge treatments, have propelled him forward, keeping him hopeful despite the odds.
The discovery of Kelch like protein 11 (KLHL11) IgG as a specific biomarker of neurological autoimmunity associated testicular germ cell tumor.
The genetic variability of glioma, and its more advanced relative glioblastoma, has made genetic testing to identify biomarkers associated with prognosis and treatment effectivity an integral component of care plan development. However, the acceleration of brain tumor research and discovery translates into an ever-changing testing environment.
At Mayo Clinic, we offer a comprehensive approach to testing that focuses on the best outcomes for the patient. Our testing method combines molecular and cytogenetic analysis (in addition to a standard morphological and histological assessment) to provide a clear picture of the diagnosis, prognosis, and treatment options. This approach maximizes the amount of information available, allowing for a tailored treatment plan.
Neuro-oncology is a complex field undergoing rapid changes with the advancement and evolution of sophisticated genetic testing. Evidence continues to grow in support of broad molecular and cytogenetic analysis for patients with brain tumors.
Resources
References
- Galbraith K, Vasudevaraja V, Serrano J, et al. Clinical utility of whole-genome DNA methylation profiling as a primary molecular diagnostic assay for central nervous system tumors-A prospective study and guidelines for clinical testing. Neurooncol Adv. 2023 Jun 26;5(1):vdad076. doi:10.1093/noajnl/vdad076. Erratum in: Neurooncol Adv. 2023 Sep 23;5(1):vdad114. doi:10.1093/noajnl/vdad114. PMID: 37476329; PMCID: PMC10355794.