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Alternative Name
CNS Molecular Profile
Methodology
Molecular
Test Description

There are certain genes recurrently mutated in tumors of the central nervous system (CNS). Genomic DNA is isolated from formalin fixed paraffin embedded (FFPE) tumor tissue and the DNA sequence of targeted regions of the AKT1, ATRX, BRAF, CD274, CDK4, CDKN2A, CDKN2B, CIC, EGFR, FUBP1, H3F3A, IDH1, IDH2, MET, MYC, MYCN, NF1, NF2, PDGFRA, PIK3CA, PTEN, RB1, SMO, TERT and TP53 genes is determined using next-generation sequencing (NGS) technology.

Clinical Significance

For Diagnostic, Predictive, Prognostic purposes.

Central Nervous System (CNS) cancers are heterogeneous and historically were sub-classified based on histology. In recent years, genomic analyses have uncovered recurrent alterations that aid in the more precise distinction between phenotypically similar diagnostic entities. This new paradigm of integrating genetic information with morphology is reflected in the most recent World Health Organization (WHO) updates for classification of CNS tumors. NCCN Guidelines for CNS Cancers also recognize that molecular studies impact diagnosis, prognosis and therapy selection, as well as eligibility for clinical trials.

Specimen Requirements
  • Tissue (Preferred): Two (2) formalin-fixed, paraffin-embedded tissue/ fine needle aspirate (FFPE/FNA) blocks containing tumor tissue from recent surgery or biopsy or sixteen (16) 2x5 µm sections with accompanying H&E slide.
  • Acceptable Alternative: One (1) formalin-fixed, paraffin-embedded tissue/fine needle aspirate (FFPE/FNA) block containing tumor tissue from recent surgery or biopsy or eight (8) 2×5 µm sections with accompanying H&E slide.
  • Unacceptable: Specimens preserved in alternative (non-formalin) fixatives, decalcified specimens, fresh or frozen tissue.
Storage and Transportation

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. DO NOT FREEZE.

CPT Code(s)*
81445x1
Turnaround Time

12 Days

New York Approved
Yes
Level of Service
Global

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.