Supporting Patient Care through Comprehensive Molecular and Cytogenetic Neuro-Oncology Testing

A Clear Picture for Picture for Physicians and Tailored Treatment Options for Patients

At Mayo Clinic, we offer a comprehensive approach to neuro-oncology testing that focuses on the best outcomes for the patient. Our advanced genetic testing combines molecular and cytogenetic analysis to complement standard morphological and histological assessment. This maximizes the amount of available information, and provides a clear picture of the diagnosis, prognosis, and treatment options. 

Comprehensive Testing

By performing immunohistochemical, molecular, and cytogenetic analysis on all patients, our testing approach provides a more complete assessment of the patient’s diagnosis, prognosis, and therapy options. 

Actionable Answers

Broad molecular and cytogenetic information is needed for all patients in order to select the most appropriate treatment options, whether standard, off-label, or clinical trial. 

Expert Interpretation

Your results are interpreted by Mayo Clinic physicians with expertise in neuro-oncology. Each report integrates patient information with supporting references. This provides patient-specific context and a better understanding of the treatment path ahead. 

Clear Diagnosis

Understanding specific molecular markers is necessary to making a diagnosis that meets classification guidelines and can guide treatment decisions and therapeutic timelines. 

World-Class Neuro-Oncology Experts


The neuropathology section at Mayo Clinic is led by Caterina Giannini, M.D., Ph.D. This team of neuropathologists, including Aditya Raghunathan, M.D., Ph.D., and Rachael Vaubel, M.D., Ph.D., has decades of experience, expertise, and training in both adult and pediatric disease, central and peripheral nervous system tumors, and genetic abnormalities in brain tumors. 

Neuro-Oncology Genetics 

The neuro-oncology genetic testing at Mayo Clinic is developed and overseen by Robert Jenkins, M.D., Ph.D., and Cristiane (Cris) Ida, M.D. Along with a team of geneticists, they bring experience and expertise in both genetics and neuro-oncology. With knowledge of both the genetic and clincal perspective of brain tumors, testing is optimized for clinical relevance. 

Neuro-Oncology Clinical Practice 

The neuro-oncology clinical practice at Mayo Clinic integrates expertise and training in neurology and oncology. Supported by Daniel Lachance, M.D., this team is actively pursuing patient research and discoveries in the genetics of brain tumors leading to optimized patient care and improved outcomes. 

Second-Opinion Consultations in Neuropathology

Brain tumors are complex and relatively rare. For many pathologists and community hospitals, less than 5% of their surgical pathology cases include patients with brain tumors. Our second-opinion consultations give neuropathologists access to Mayo Clinic neuropatholgists who can help choose the most appropriate molecular and cytogenetic testing. Our experts help integrate laboratory results with clinical and histopathological information for a comprehensive report with patient-specific diagnostic, prognostic, and therapeutic information. 

Comprehensive Genetic Profiling For Brain Tumors

Mayo Clinic is recognized worldwide for providing care for complex diseases including brain tumors. With rapid technological advancements and medical discoveries, the standard approach to genetic testing is evolving. In a clinical study of adult glioma patients, comprehensive molecular and cytogenetic analysis resulted in significant, and sometimes unexpected, patient impact. 

Clinical Relevance: Findings in Glioma Patients 

In a Mayo Clinic study of adult glioma patients, comprehensive molecular and cytogenetic analysis resulted in a significant positive impact on patients. Of 400 patients seen, 75% received diagnostic, prognostic, and/or predictive information. 

Testing Designed for Clinical Relevance in Neuro-Oncology

Detection of Mutations and Rearrangements by Next-Generation Sequencing 

Our next-generation sequencing panel evaluates mutations and rearrangements in 219 genes, including all abnormalities described for both adult and pediatric brain tumors by the World Health Organization 2016 classifications. NONCP includes assessment of mutations in 150 genes, and rearrangements in 81 genes including 104 fusions and 29 transcript variants. 

Superior Analysis of Copy Number Deletions and Duplications 

Chromosomal microarray provides high-resolution assessment of copy number variations across the genome. This includes superior analysis of the 1p/19q deletion in gliomas. Additionally, microarray detects abnormalities such as the gain of chromosome 7, loss of chromosome 10, and EGFR amplification. According to recently published guidelines, when these abnormalities are found in diffuse astrocytic gliomas, IDH-wildtype, the tumor should be considered as having molecular features of glioblastoma.1 Copy number variations can also further clarify or support diagnosis and provide information useful for prognosis. 

Testing to Predict Therapy Response 

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

Samantha Rossi

Samantha Rossi is a Digital Marketing Manager at Mayo Clinic Laboratories. She supports marketing strategies for product management and specialty testing. Samantha has worked at Mayo Clinic since 2019.