Molecular and cytogenetic testing
Supporting patient care genetic testing
With rapid technological advancements and medical discoveries, the standard approach to genetic testing is evolving. Mayo Clinic Laboratories is at the leading edge of testing innovation and offers both MayoComplete next-generation sequencing (NGS) and chromosomal microarray testing to complement standard morphological and histological assessment.
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:
Molecular and cytogenetic test menu
Next-generation sequencing
Our neuro-oncology next-generation sequencing panel is part of our suite of MayoComplete panels. It evaluates mutations and rearrangements in 160 genes, including most abnormalities described by the World Health Organization 20211 classifications. Our panel includes assessment of mutations in 89 genes and rearrangements in 81 genes, including 104 fusions and 29 transcript variants.
Key testing
Advantages
- Provides simultaneous evaluations for genetic mutations, microsatellite instability status, and gene fusions.
- Identifies mutations and rearrangements that may support diagnosis and prognosis 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.
Highlights
Dr. Dong Chen and Dr. Sounak Gupta joined the “Becker’s Healthcare Podcast” to discuss the molecular testing space and its important role in personalized cancer treatment. Dr. Chen and Dr. Gupta highlighted the importance of selecting the right molecular tests for patients, the impact of genetic testing on cancer diagnosis and treatment, and how Mayo Clinic Laboratories is helping physicians make informed decisions for the best patient outcomes.
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.
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
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.
Highlights
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.
MGMT promoter methylation status
MGMT promoter methylation status has prognostic value for glioblastoma patients and can assist in predicting therapeutic response.
Key testing
- MGMT | MGMT Promoter Methylation, Tumor
- Fast turnaround time.
- Requires small amount of tissue.
Additional testing
References
- WHO Classification of Tumours Editorial Board, Central nervous system tumours. Lyon (France): International Agency for Research on Cancer, 5th ed., vol. 6, 2021.
- 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.