Visual disorders gather a collection of highly heterogeneous diseases at the clinical and genetic level. The high number of candidate genes and mutations to be screened to diagnose for instance retinal disorders, and the molecular complexity that underlies this group of diseases has up to now deeply restrained the implementation of conventional genetic tests in medium-size diagnostic labs. Recently, the advent of massive sequencing strategies has opened new scenarios for reliable identification of genome/exome genetic variants and so enormously increased the yield of successful genetic diagnosis for monogenic rare disorders and, worth remarking, at reasonable costs.
Our deep experience using cutting-edge technologies supports WES and customized targeted sequence panels as the preferred tools for efficient genetic diagnosis of visual disorders. WES targets the coding regions of genes, exons, which account for 85% of pathogenic mutations causing human disease. Besides, this methodology is instrumental to unveil novel disease-causing genes. In recessive cases, the WES diagnostic efficiency reaches 95%. Customized panels allow rapid screening of coding sequences of the major genes causing retinal disorders.
Our diagnosis service portfolio includes: