GENETIC TESTING/

Whole Exome Sequencing

Best-in-class Whole Exome Sequencing, by the Leaders in Medical Genetics

What is Whole Exome Sequencing?

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.

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HUMAN GENES
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RESULTS IN DAYS
(URGENT TAT)
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RESULTS IN DAYS
(REGULAR TAT)

What does WES include?

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.

Every genetic disease can be detected

Mental Retardation
Epilepsies
Congenital Malformations
Metabolic disases
Neuromuscolar disorders
Adult onset diseases
Mental Retardation
Epilepsies
Congenital Malformations

Metabolic Disases

Neuromuscolar disorders

Adult onset diseases

Who's the test for?

I’m healthy, do I need WES?

Whole Exome Sequencing is also indicated for individuals with no clinical remarks or family history, willing to know if they have harmful genetic mutations that may develop into overt disease later in time or be transmitted to the offspring (see PROACTIVE).

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