EXOMA Sequencing

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EXOMA Sequencing

EXOMA sequencing

The answer is in your genes

EXOMA Sequencing Complete (Whole Exome Sequencing, WES for its acronym in English)

In recent years, the capacity and effectiveness of genetic testing has improved significantly, making it possible to use techniques that used to be very expensive now to ancalce in order to use it as a diagnostic tool in multiple diseases.

In this sense, one of the most promising genetic tools is the sequencing of the complete exome, which allows us to analyze the coding part of the genome, the one that gives rise to the proteins.

The clinical sequencing of exome is a powerful tool for physicians, especially in the care of pediatric patients with congenital malformations in critical condition.

EXOMA

The complete sequencing of EXOMA can be used to identify the molecular basis of the disorder in an affected individual. The EXOMA test is different from other types of genetic diagnostic tests in terms of the number of genes that are sequenced simultaneously.

The EXOMA test targets the coding regions of the genes. These specific regions of an individual’s genes, called exons, are captured and sequenced using massive sequencing. The sequence of an individual is then compared with reference sequences published in international databases which helps to identify the causal variants that could explain the disorder in the affected patient.

How is the analysis performed?

This study is carried out in two stages, first the EXOMA sequencing is performed. In the second stage, the analysis of the sequences is carried out in which all the variants of the sample are identified and the variants are linked to the disease.

Advantage

The fundamental advantage of the complete sequencing of EXOMA is to be able to have the sequence of all the functional genes at a much lower cost than one to one.
Another advantage of the complete sequencing of EXOMA is that all exons in all genes are sequenced. So the test is very broad and has a superior diagnostic performance compared to the conventional methods of other genetic tests of individual gene analysis, panels of frequent mutations

When is EXOMA recommended?

When it is difficult to reach the diagnosis by conventional clinical or laboratory criteria (eg: shared symptoms among several diseases).
When the evaluation is complicated or expensive (eg when there are multiple candidate genes, as in Charcot, Marfan, QT-long, metabolic disorders or when several large genes require evaluation).
There are many benefits of EXOMA sequencing in the detection of causal variants of Mendelian disorders compared to whole genome sequencing or individual gene sequencing.

The frontier of genomic medicine is complete genomic sequencing.

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