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Our Services > WES

WES Whole Exome Sequencing

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

  • Overview
  • Features
  • How does it Work?
  • I’m a health specialist

Information obtained from DNA that has over 24,000 genes

+14.000 clinical exomes since 2015

Advanced NGS technology

Quality reporting

Overview

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 look 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.
Features
  • Benefits
  • Indications

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.
How does it work?

Other services you may be interested

PGT-M

Prevents the transmission of single gene disorders

More information

ERA

Avoid implantation failure by establishing the best day and time for embryo transfer

More information

CGT

Determines the risk of having a child with a genetic disease

More information

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