cobas^® EZH2 Mutation Test

The cobas® EZH2 Mutation Test is a real-time, allele-specific polymerase chain reaction (PCR) test for the qualitative detection of single nucleotide mutations of the Enhancer of zeste homolog 2 (EZH2) gene in DNA extracted from formalin-fixed paraffin embedded (FFPE) human follicular lymphoma (FL) tumor tissue. It is intended for the identification of FL patients with an EZH2 mutation for treatment with TAZVERIK™ (tazemetostat), an EZH2 inhibitor.

The test uses primers that define specific base-pair sequences designed to detect the following mutations in Exons 16 and 18: Y646N, Y646F or Y646X (Y646H, Y646S, or Y646C), A682G, and A692V. Additionally, the test uses a wild type region of Exon 11 for robust internal control. Specimens are processed using the cobas® DNA Sample Preparation Kit¹ to extract DNA from FFPE tissue. Mutation detection is achieved through PCR analysis with the cobas z 480 Analyzer for automated amplification and detection.

• Single 5 µm tissue section (total DNA input of 150 ng)
• High concordance with NGS in clinical trial (N=341): >98% (PPA) and >98% (NPA)
• Reproducibility: 100% agreement in 2,690 valid tests 
• Analytical sensitivity 1-5% mutation (variant-dependent) 
• Time to results <8 hours
• Throughput 1 – 30* samples per run