Exome diagnostics is the genetic testing approach of choice for patients with complex, heterogeneous, and unspecific symptoms.
It supports physicians in stating a diagnosis, often after their patients have experienced years of uncertainty.
The exome comprises all protein-coding regions (exons) of the about 23,000 genes in the human genome. Although the exome makes up only about 1-2% of the whole genome, approximately 89% of all known disease-causing mutations are identified to be located within the exons.
Sequencing of the whole exome allows the simultaneous analysis of a very large number of genes in any combination. It substantially increases the chances of finding the genetic cause of complex phenotypes in shorter time compared to genetic tests of small gene subsets.
For more information contact DNA Consullta on (+ 356) 7979 7910 by sending an email to novagia@hotmail.com