To start with “whole exome sequencing”, all we need from our clients is a sample of saliva, for which we provide a special collection tube. DNA is extracted from this sample, and the sequence of all 20.965 genes is read by the latest technology in next generation sequencing of the whole exome.
The large amount of data generated by the DNA sequencer requires a vast bioinformatics system to make sense of the outcome. Specialists in bioinformatics have constructed a pipeline of sophisticated programs to search through the data and determine the significance of your DNA variants. By comparing your specific sequence with international medical databases, the risk for almost 10.000 conditions can be foreseen, including diseases such heart or vascular problems, all sorts of cancer, Alzheimer, dementia, etc. .
But this information is of no use if not interpreted correctly in a clinical sense. Therefore, our team of highly educated PhD in genetics, and biologists are working closely together with medical specialist, to draw accurate conclusions about the relevance of the detected variants.
Due to numerous steps in the process, all requiring a certain amount of time to guarantee quality and accuracy of the results, the final report can be delivered in about 6 weeks after DNA extraction.