The exome is the part of the genome formed by the exons, the parts encoding genes that will form part of the mature messenger RNA and which will give rise to proteins. It is the most important functional part of the genome and which contributes more to the final phenotype of an organism. In the case of human exome, it consists of approximately 180,000 exons that give rise to 22,000 genes. Its size corresponds to approximately 1% of the total size of the genome.
Genome sequencing is performed using the novel technique known as “Next Generation Sequencing”, developed from the first sequencing of the Human Genome in 2000. This technology has allowing it to be accessible to the public. From a point of technical view, the sequence is performed by DNA fragmentation in millions of small fragments that are read individually and are assembled again following a pattern known as the “reference genome”. The comparison with this genome allows detection of individual variations as well as mutations potentially pathogenic.
There are no medical diagnoses, something that can only be done by doctors specialists in the exercise of their profession. In the case of finding a genetic origin marker, and if the client requests it, Fullgen has medical advisors specialists in human genetics who can advise about the steps to follow. Also our specialists could contact your physician to inform the results directly, and to resolve any doubts that he has regarding your case.
As standard, Fullgen analysis includes all genes. If you have indications of a particular genetic disease, a thorough analysis will be carried out additional, of the genes already typified as potential causers.
The mitochondrial genome is not analyzed, although mitochondrial type diseases caused by genes present in the exome are analyzed.
The complete analysis is ready between 30-50 days after receipt of the sample.
In the case you already have your sequence, we can do the bioinformatics analysis. Our analysis is performed by highly qualified scientists and doctors, ensuring a quality result.