Whole Exome Sequencing

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

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Most of disease-causing mutations occur in the exome. Exome has 1.7 percent of a human genome that encodes proteins. Thus, Whole Exome Sequencing (WES) is:

  • Highly extensive to identify genetic mutations or alterations in DNA that may not have been picked in earlier genetic tests.
  • Couples can plan their family through this genetic diagnosis and eliminate their chances of having an affected child. This information can be useful for other members in the same family as well.
  • Advanced NGS (Next Generation Sequencing) technology is used to determine the information obtained from millions of DNA fragments.
  • Performed +14.000 clinical exomes since 2015
  • More than 20 years of experience
  • CAP Accredited


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.


  • Most advanced methodology, NGS is used to obtain the information from millions of DNA fragments corresponding to over 24.000 genes that consists of a set of molecular biology and bioinformatics analysis tools.
  • An additional 6 genes such as Congenital Adrenal Hyperplasia (CAH), Fragile X, Spinal Muscular Atrophy (SMA), Hemophilia A, Duchenne Muscular Dystrophy (DMD), Spinocerebellar Ataxia (types to be determined) are done on Sanger Sequencing to assure the accuracy and consistency of the WES.

How it works

How it works

Report will be delivered in 8-9 weeks after receiving the samples in our lab

Downloads & publications



Step by Step Provider

Step by Step Provider





The tested person carries a mutation in a particular gene. The test should be carried out in the other member of the couple.

A negative result indicates that the person doesn’t carry any of the mutations studied.
There is still a small risk of carrying another mutation not analyzed by the test.

Do you want to start using our Genetic Services?

For further assistance please contact our customer support team by phone or e-mail

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