Certain patients present a combination of symptoms characteristic of syndromes with several associated genes. In these cases, the study of a single gene is usually an inefficient strategy, resulting in staggered, lengthy and costly diagnostic processes that can end up delaying diagnosis and negatively affecting their quality of life. 85% of the known pathogenic variants are found in the coding regions of the genes, the exons.

Focusing on these regions where the disease causing genetic alterations are most likely to be found, RefLab Whole Exome® sequences the whole exome (WES) and interprets the sequencing data from a clinical point of view, offering comprehensive and conclusive medical reports.