Exome sequencing refers to a genetic analysis for patients with complex, heterogeneous and unspecific symptoms. Exome sequencing supports the diagnosis.
The exome comprises all protein coding regions (exons) of the approximately 23,000 genes in the human genome. Although the exome comprises only about 1-2 percent of the entire genome, about 89 percent of all known disease-causing gene variants were found in exons.
The sequencing of the entire exome allows the analysis of a very large number of genes at once and in any combination. Compared to investigations of smaller gene sets, this increases the probability of finding the genetic cause of complex phenotypes - and in less time.