The human genome contains more than 20,000 genes, of which around 6,000 are known be involved in various diseases.
Each gene is composed of exons and introns. Exons are coding regions, giving rise to proteins, while introns are non-coding regions.
The exome is a set of exons that includes all the exonic regions of the genome.
Exome sequencing is a technique used to search for mutations in all genes, based on next-generation sequencing (NGS) technology.
ICM offers two types of diagnostic approach to a case.
- Clinical exome sequencing: entails the sequencing of more than 5,000 genes associated with various disorders.
- Trio-based exome sequencing: in this case, more than 20,000 genes included in the genome are sequenced. It is used in cases where the phenotype is complex with an unknown aetiology.
In such a case, when analysing such a large number of genes and obtaining the analysis of hundreds of genetic variants of unknown significance, it is essential to compare the data obtained from the patient with their parents. This information can then be used to filter those variants that are found in the patient and in at least one of their parents, and to identify them as benign if the parents are healthy individuals.
ICM utilises sequencing technology with the best coverage and depth on the market. The coverage offered exceeds 100% and the average depth is 120X.