Mayo Clinic Laboratories > Oncology > Neuro-oncology > Molecular and cytogenetic testing

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


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


MGMT promoter methylation status

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

Key testing

Additional testing


References
  1. WHO Classification of Tumours Editorial Board, Central nervous system tumours. Lyon (France): International Agency for Research on Cancer, 5th ed., vol. 6, 2021.
  2. 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.
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