Exome sequencing is an advanced sequencing technique in which the entire exome of an individual is examined. The exome contains the genes and changes that code for proteins. These regions are responsible for many genetic diseases. Exome sequencing allows us to identify potentially disease-causing variants located in the protein-coding parts of the genome. This method enables us to investigate a wide range of genetic diseases and make precise diagnoses. The analysis examines single nucleotide variants (SNVs), small InDel variants (up to ~50 bp) and copy number changes (deletions/duplications) of the exome. In a trio analysis (parents and child), de novo variants, compound heterozygosities, X-linked inheritance (hemizygosity) in male patients and parental mosaicism can also be examined.

Material: 2.7 ml EDTA blood