12 – 14 weeks

Whole Exome Sequencing (WES)

Allows for the simultaneous, automated, fast and accurate sequencing of all the coding regions (exons) of the human genome (approximately 20,000 genes, representing 1% of a human’s DNA) with an average coverage over 90x. Then, using bioinformatics programs, any genetic variants found in the genes that cause hereditary eye diseases are noted and analyzed. These regions contain 85% of the pathogenic mutations described as causing hereditary pathologies in humans.

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Genetic diagnosis laboratory authorized by the Department of Health of the Government of Catalonia – E08709630