WES Whole Exome Sequencing

A complete DNA test to identify mutations in over 24,000 genes related to complex genetic problems

+14.000 clinical exomes since 2015

Advanced NGS technology

Quality reporting

What are genetic diseases?

Genetic diseases are caused by mutations – changes to our genes. Mutations associated with recessive genetic disease can be present in DNA without affecting the individual – they are a carrier of the condition. 82% of individuals are carriers of at least one condition.

What is WES?

> A complete genetic test that looks for alterations in the DNA sequence within over 24,000 genes in complex genetic disorder cases.

> Examines a wider panel of genes that are responsible for the most complex health conditions.

> WES reaches the end of the line for diagnostic options, with no other tests that could be offered.

> Classifies information obtained from DNA that has over 24,000 genes.

Why use WES?

An exome sequencing study can identify:

> Numerous mutations or changes in the DNA that can result in an affected child in the patient’s family.

> The main indication of exome sequencing is to characterize an unmapped monogenic genetic disease present in a descendant, recognized as an index patient.

> The WES test aims to identify a mutation that explains the symptoms associated with a typically hereditary disease.

Is WES for you?

This test is suitable in case of:

> For any couple who wants to know the risk of transmitting hereditary genetic disorders to their children.

> Before an assisted reproductive treatment (ART) to understand the mutations in the DNA that can lead to affected child.

> For couples who have already undergone some genetic testing and is looking for the most extensive genetic tests.

> WES may find a genetic cause for your or your child’s signs and symptoms even if previous genetic testing did not.

> Individuals with genetic disorders known to have multiple associated genes, or multiple number of clinical signs and symptoms.

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