Although about 85% of human disease-causing mutations fall within the coding regions (exome) or in proximity of the exon/intron boundaries, there is still a proportion of mutations that arise outside these areas, that is within large intergenenic portions or in deep intronic regions which, all together, represent the vast majority of the human genome (about 98%). The screening of the arge intergenic tracts and of the deep intronic regions requires therefore the analysis of the whole genome (Whole Genome Sequencing – WGS). BREDA GENETICS has decided to take this challenge by offering an outstanding service of whole genome sequencing for clinical use (GENOME FULL). Our extraordinary analysis protocol, which is run exclusively on the latest Illumina platforms by a Certified Illumina Service Provider (CSPro) and is supported by an exceptionally evolved bioinformatic pipeline and our pluriannual know-how in genetic data interpretation, allows us to literally sift all the 6 billion nucleotides of the patient’s DNA in search for that unique variant that causes the disease.

If you are interested in doing Whole Genome Sequencing for yourself or your patient, please contact us or request a genetic counselling today >>>