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Multiplex Mutation Detection PCR

Cancer is a genetic disease caused by the accumulation of various mutations. Types of mutations determine the phenotype of a tumour: its location, aggressiveness, and sensitivity to the therapeutics. Detection of cancer-associated point mutations in samples can improve early diagnostics, the identification of minimal residual disease during chemotherapy, determination of personalized therapies and can detect the appearance of tumor cells in relapsing patients.


Current products used in the research and clinical laboratories are expensive, require significant amounts of material, which may be scarce, and are not sensitive enough to detect rare mutations (often, during cancer development, only few cells contain mutated DNA). Robust diagnostic assays must be able to detect even rare mutated DNA in a high background of a normal genetic material.


GeneFirst’s proprietary MMD-PCR technology (Multiplex Mutation Detection PCR) is a real-time PCR-based technology intended for detection of cancer-associated mutations in DNA extracted from various materials.

The Principle
  • MMD-PCR assay relies on combination of specially designed mutation-specific primers, blocker-probe and unique cycling conditions to facilitate selective amplification of PCR product with mutant allele, at the same time blocking amplification from wild type (normal) allele. This allows detection of even rare mutations against high background of normal, non-mutated genomic DNA. 

  • Very high sensitivity makes MMD-PCR technology particularly suited for detecting cancerous mutations in peripheral blood samples since a lot of tumors release portions of their genetic material into the bloodstream.

Key Advantages
  • Significantly increased sensitivity (detection of low copy number mutations – 1% to even 0.1%);

  • Robust and simple enough to be readily implemented in a diagnostic laboratory;

  • Rapid enough to provide important therapeutic information;

  • No additional steps (like post-PCR sequencing) required;

  • Increased sample throughput – it can detect several different mutations in one,closed-tube reaction;

  • Cost-efficient

Assays Available

GeneFirst has developed cancer mutation detection assays using the MMD principle - click HERE to find out more.

If you'd like to know more about licensing opportunities with MMD, please contact us at

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