Identification of point mutations

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.