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.
All coding regions of the genes in the human genome (approximately 20,000 genes), with special emphasis on genes previously associated with genetic pathologies.
This test is recommended when the clinical diagnosis indicates an eye disease that is not included in the full panel, or when the patient’s clinical diagnosis is unclear.
By studying the exome, the number of genes analysed greatly exceeds those included in the panels. From this approach new causative genes can be characterized, thereby expanding the genetic basis of eye diseases.