The analysis of the patient’s total genome is carried out with the help of so-called Next Generation Sequencing (NGS) equipment. The patient's genome is sequenced, which is a proces that produces large sets of data. Bioinformaticians hereafter process the data with the help of the supercomputer. The very advanced procedure's purpose is to identify changes in the patient's entire genome.
Genome changes will be interpreted according to international guidelines and divided according to their expected importance. The categories are: benign, presumed benign, of unknown importance, potentially disease causing, disease causing.