Adulthood

    Sorry, no pages was found

Point mutation digital PCR

Sistemas Genómicos uses the next-generation droplet digital PCR (ddPCR) technique to locate mutations associated with different tumour diseases.

With this technique, our laboratories detect early on with a high level of precision and sensitivity, with the ability to quantify variants present at low frequency:

  • 75% (NRAS), 60% (KRAS) and 80% (BRAF) of mutations associated with bowel cancer
  • 90% (EGFR) of mutations associated with lung cancer
  • 80% (BRAF) of mutations associated with Melanoma

Clinical Applications

  • Detection and quantification of the most common variants in samples in paraffin of somatic tumours (lung, melanoma and bowel), relevant for the selection of the right pharmaceuticals for the patient at the initial time of diagnosis.
  • Monitoring of the state of remission of the tumour using the regular detection of the variant identified at the time of diagnosis, using samples in paraffin.

Lorem ipsum dolor sit amet...

The technique is based on clonal amplification using PCR on a part of the sample. The system divides the samples of nucleic acids into up to 20,000 drops and each of them will have a maximum of one template DNA molecule. Each drip will act as an individual container for the amplification reaction. Then, the system transforms the analogue signal received into a digital signal depending of presence or absence. Lastly, the result is shown as a percentage or ratio of DNA carrying the variant under study compared to the wild type DNA.

  • Simplicity: simplification of the absolute quantification of the copies of DNA carrying the variant under study.
  • Precision: the division of the drops in the sample allows us to quantify the tiny difference between the numbers of copies in the target DNA sequence.
  • Sensitivity: increases the signal/noise ratio thanks to the enrichment of template DNA molecules against the background DNA; this way we get heightened sensitivity in the detection of low-frequency sequences (±10%).
  • Resistance to inhibitors: allows us to work with environmental samples, degraded samples and samples in paraffin.
  • Intra- and interassay reproducibility: elimination of the bias derived from the amplification through PCR that allows for the quantification of small-scale differences.
  • Optimisation of laboratory resources: given the reaction volumes in the picolitre-nanolitre range, the use of reactants and the sample required is less for each experiment.

Accreditations

 

View Quality Model

We can clear up any doubts

Here at Sistemas Genómicos, we provide you will all our knowledge to help you.

Personalised Services

We provide personalised analytical solutions for our specialisation areas.