What is exome sequencing?
Sequencing is and will be the technique par excellence for
Accurate diagnosis of genetic conditions.
Whole exome sequencing, also known in English as Whole Exome Sequencing (WES), is a powerful tool that allows us to deeply analyze our genetic code, since its objective is to obtain as much genetic information as possible from a patient, looking for genetic variants throughout the approximately 20,000 genes that constitute it.
One of the greatest advantages of this technique is that it helps us to accurately detect any genetic alteration that could have a direct impact on our quality of life. Its main use is in the diagnosis of genetic conditions, including inherited diseases and genetic syndromes.
What is complete EXOME sequencing for?
About 85% of human genetic diseases or conditions are caused by changes in the DNA sequence, that is, by mutations located in the exons.
These mutations often cause syndromes, a set of metabolic characteristics that somehow affect the proper performance of our body. EXOME sequencing allows us to detect in a timely manner which genetic alterations are present and thus give them the most appropriate diagnosis and treatment.
Whole EXOME sequencing can be used to identify the molecular basis of the disorder in an affected individual. This test is different from other types of genetic diagnostic tests in terms of the number of genes that are sequenced simultaneously, it provides a diagnosis rate greater than 32% detecting single nucleotide variants (SNPs), deletions and small duplications (CNVs).
- When it is difficult to reach the diagnosis by conventional clinical or laboratory criteria.
- Atypical clinical manifestations.
- When the evaluation is complicated or expensive. Due to the clinical similarity between several conditions, it is necessary to do several ruling-out studies before reaching an accurate diagnosis.
- Genetic disease caused by alterations in more than one gene.
Advantages of performing an Exome study
- The fundamental advantage of complete EXOME sequencing is to be able to obtain the sequence of all functional genes at a much lower cost than one by one.
- Solve complex diagnostic cases.
- Broad Genetic Spectrum Covered: Superior diagnostics compared to conventional methods of other genetic testing, such as single gene analysis or frequent mutation panels.
- It is only necessary to carry out the study once in a lifetime. Our genetic information stays in the same state over time, so the information you get right now will be almost identical in a few years. This allows a periodic review in the event of new related scientific evidence, at no additional cost.
Process to carry out the study
This study is carried out in two stages, firstly, a sample of saliva, blood or any cellular material is required that allows the extraction of total DNA to carry out the EXOME sequencing (this is carried out in a Nova Seq 6000 equipment with the Human hg38 as reference genome and a 150 bp PE read The SureSelect V6 post capture kit exome pre-designed library is used (100X coverage in raw data and 50X targeted).
In the second stage, the analysis of the sequences is carried out where all the variants found are analyzed to identify those pathological or potentially pathological according to the recommendations of ACMG (American College of Medical Genetics).
Finally, the results are analyzed and interpreted by our highly qualified experts.
This whole process takes about 60 business days.
How will I see the results of my study?
Download a sample report!
In this document you can see an example of how you will visualize your results and its scope:
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