12 – 14 weeks

Whole Genome Sequencing (WGS)

Simultaneous, automated, fast and precise sequencing of the coding (exons) and non-coding (introns and regulatory sequences) of the human genome with an average coverage greater than 30x. Subsequently, using bioinformatics programs, tany genetic variants found in the genes that cause hereditary eye diseases are analyzed. Unlike analysis by specific panels or whole exome sequencing, whole genome sequencing allows to identify any type of mutation: single nucleotide variants, copy number variation and large genomic rearrangements.

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