Genome sequencing is a high-resolution technology that examines the entire human genome. In contrast to exome sequencing, genome sequencing covers the entire genome, including non-coding regions. This allows us to identify not only causative variants in the coding genes, but also in regulatory regions that may contribute to the development of genetic diseases. Genome sequencing is an extremely powerful method for identifying even rare genetic variations and determining the genetic cause of diseases. In addition to the possibilities of exome sequencing, genome sequencing allows the identification of larger structural variants, the analysis of so-called repeats and variants in non-coding regions that may be the cause of disease.

Material: 2.7 ml EDTA blood