CNS Tumor Methylation Classifier

India’s First Genome-Wide Methylation-Based Precision Diagnostic Test for CNS Tumors

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What is CNS Tumor Methylation Classifier?

Accurate classification of central nervous system (CNS) tumors remains a challenge, despite advances in histopathology and molecular testing. As per the WHO 2021 guidelines, integrated molecular and histological diagnostics are now essential for precise CNS tumor classification. MedGenome’s CNS tumor methylation classifier is a genome-wide DNA methylation–based assay that complements conventional histology by delivering high-resolution molecular classification and tumor subtyping to improve diagnostic accuracy.

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Key Features of CNS Tumor Methylation Classifier

Feature	Description
Complements conventional histopathology	Enhances routine histopathology by adding molecular-level insights for more confident diagnoses.
Distinguishes morphologically similar tumors	Differentiates tumors that appear similar under the microscope but are biologically distinct.
Resolves diagnostic discrepancies	Helps clarify ambiguous or conflicting pathological interpretations.
Improves prognostic accuracy	Enables precise tumor subtyping, leading to more accurate prognosis prediction.
Reduces unnecessary or inappropriate treatment	Prevents over- or under-treatment by ensuring correct tumor classification.
Increases diagnostic specificity	Improves differentiation among tumors sharing overlapping molecular markers.
Identifies novel tumor entities	Detects previously unrecognized or rare tumor subtypes through advanced profiling.
Enables personalised treatment planning	Supports selection of targeted and individualized therapeutic strategies.
Supports better clinical trial enrolment	Assists in matching patients to appropriate clinical trials based on precise tumor classification.

Clinical Applications of CNS Tumor Methylation Classifier

Resolves histologically ambiguous and complex differentials, enabling confident molecular classification with calibrated, high-confidence scores. Example: High-grade neuroepithelial tumor (HGNET) vs atypical teratoid/rhabdoid tumor (AT/RT).
Differentiates prognostic subgroups to support outcome prediction and risk stratification. Example: WNT-activated medulloblastoma demonstrates significantly better prognosis compared to SHH-activated or Group 3/4 variants.
Supports WHO-aligned tumor grading, ensuring accurate, guideline-compliant diagnosis.
Provides genome-wide copy number variation (CNV) profiling to detect key chromosomal alterations relevant to CNS tumors.
Enables personalised treatment planning by identifying clinically relevant molecular alterations, resistance patterns, and emerging therapeutic targets.

Specifications

Platform: Whole-genome methylation profiling.
Technology: Captures methylation patterns across the entire genome.
Classification: Categorises CNS tumors into >90 distinct tumor classes.
Gene coverage: Detects actionable and prognostic genes, including IDH1, IDH2, H3-3A, MGMT, ATRX, TERTp, CDKN2A, CDKN2B, EGFR, MET, MYB, MYBL1, MYCN, NF1, NF2, PDGFRA, PTEN, SMARCB1, TP53, among others.
Chromosomal alterations: Includes 1p/19q co-deletion, chromosome 7 gain / chromosome 10 loss, chromosome 14 alterations.
Sample Type: FFPE block (>30% tumor content)
Fresh tissue

CNS Tumor Methylation Classifier Tests Offered by MedGenome

CNS Tumor Methylation Classifier

TAT: 21 working days
Test Code: MGM3615

Key Highlights of MedGenome’s CNS Tumor Methylation Classifier:

All-in-One Precision

Covers every key marker, from genome-wide methylation signatures to critical molecular alterations, in line with WHO 2021 guidelines for CNS tumors.

Diagnostic Strength

Achieves >90% sensitivity and specificity, ensuring high diagnostic accuracy and confidence in CNS tumor classification.

Extensive Tumor Coverage

Applicable to all CNS tumor types, including adult and paediatric gliomas, gangliogliomas, ependymomas, embryonal tumors, and others.

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MedGenome is trusted and recommended by 24,000+ clinicians and 8,000+ hospitals across India and South Asia.

What is CNS Tumor Methylation Classifier?

MedGenome’s CNS tumor methylation classifier is an advanced test designed to accurately identify different types of brain and spinal cord tumors. The test analyses specific patterns in the tumor’s DNA, known as methylation patterns. DNA methylation is a natural process that influences the function of genes. In tumors, these methylation patterns change in distinct ways and act like a molecular fingerprint unique to each tumor type. By examining these patterns, the classifier can distinguish between tumors that may appear identical under the microscope. This deeper level of analysis allows for a more precise diagnosis, providing a clearer and accurate understanding of the tumor’s specific characteristics.

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How is the CNS Tumor Methylation Classifier Test Done?

Steps	Description
Sample collection	A small tissue sample is obtained through a biopsy or surgery.
DNA Extraction and Microarray	The methylation pattern is analysed from the genetic material of the sample.
Methylation score prediction	Based on the methylation pattern of the tumor tissue, the molecular subtype is predicted using a machine learning model.
Result interpretation	The test results help to understand the molecular subtype of the tumor and the mutation profile of various CNS-related genes.

Laboratory specialist analyzing blood samples, supporting maternal blood group assessment through Rhesus D Track

Why Is CNS Tumor Methylation Classifier Important?

Diagnosing CNS tumors can be complex as many subtypes appear similar under the microscope. This test helps by:

Providing a more accurate diagnosis.
Clarifying tumor type and grade.
Helping doctors choose the most appropriate treatment.
Avoiding unnecessary or overly aggressive therapies.
Supporting better long-term outcomes.

Who May Benefit From the CNS Tumor Methylation Classifier?

Medical professional verifying clinical details for Rhesus D Track testing

How Is the Sample Collected?

The test is performed using standard tumor sampling methods, requiring no additional procedures. It can be conducted on:

Tumor tissue preserved as an FFPE block.
Or fresh tumor tissue collected during surgery.

How Does CNS Tumor Methylation Classifier Help in Treatment Planning?

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