GROSS MUTATIONS (LARGE DEL/DUP)
CUSTOM & SPECIALS
Exome sequencing solutions
Exome Sequencing is the sequencing of all genes of the genomes. Several types of exome sequencing can be done. The two most common types are clinical exome sequencing (CES), which consists in the sequencing of all 6,000 genes which have been so far associated to human disease, and whole exome sequencing (WES), which consists in the sequencing of all 20,000 human including both the clinically known ones and any other gene which has not been associated to disease yet. Any good exome sequencing solution, like the ones of Breda Genetics, also include the analysis of the mitochondrial DNA (mtDNA). Based on exome sequencing, we can analyze the sequence of one single gene (EXOME GENE), of one single panel of genes (EXOME PANEL) or even the whole data, wither for singletons or trios (EXOME 15MB, EXOME 33MB, EXOME 50MB). For more specific information about the differences between CES & WES we redirect you to our Technohub page about CES & WES.
Genome sequencing solutions
Although about 85% of human disease-causing mutations fall within the coding regions (exome) or in proximity of the exon/intron boundaries, some mutations may fall outside these areas, arising in intergenenic or deep intronic regions which, all together, represent the vast majority of the human genome (about 98%). The screening of the arge intergenic tracts and of the deep intronic regions requires the analysis of the entire genome (whole genome sequencing). GENOME FULL, which is availabe for singleton or trio analysis, takes advantage of our extraordinary analysis protocol, by which we literally sift all the 6 billion nucleotides of the patient’s DNA in search for that unique variant that causes the disease.