The Whole Exome represents the totality of human genes. It’s consistent with 2% of the entire human DNA, yet it contains 85% of all pathogenic mutations.
Doing Whole Exome Sequencing (WES) means sequencing the entire coding regions of all the 20,000 human genes. This is the most expansive approach for genetic disorders, from rare diseases to genetic susceptibility to cancer. Whole Exome Sequencing reaches unprecedented diagnostic success rates and shortens the solution of the diagnostic odyssey from years to just a few weeks, thanks to its high yield.
Whole Exome Sequencing answers the diagnostic question, as it finds the mutation causing the patient’s disease. Besides this, it also gives important insights into all human genes.
+ 20,000 Human Genes
By reading the entirety of the coding regions of, the diagnosis can be reached faster than ever. This is the end of the diagnostic odyssey.
+ Mitochondrial DNA
Our exome also includes the mitochondrial DNA (mtDNA); mtDNA mutations are detected in at least 1:2000 exomes.
+ CNVs
Our exome includes screening Copy Number Variations (CNVs) at an unprecedented resolution (from exonic to multiexonic).
+ Carrier Screening
Carrier screening for recessive genetic diseases to calculate a couple's specific reproductive risk.
+ PanOrpha
Running our internal panel of 300+ new gene-disease associations not deposited in databases yet.
+ Incidental Findings
From cancer to sudden death, we may harbor pathogenic mutations which can cause severe disease in the future.
Metabolic Disases