The molecular diagnosis of many genetic diseases was unfeasible until recently.

Most families with affected members suffer the anxiety of uncertainty in the assignment of carriers, with no reliable prenatal diagnosis or even adequate genetic counselling. OrigoGEN was generated to fill this void and we use the current advances in human genetics to offer specific molecular diagnosis for some of the most prevalent genetic eye diseases.

This service is offered to the patients and their families as well as to ophthalmologists specialized in hereditary retinal distrophies and glaucoma, as a means to confirm and complement the clinical diagnosis.

It is worth noting that preventive treatments derived from precise molecular diagnosis, as in the case of glaucoma, have a direct effect on two relevant social issues: to prevent the disease or halt its progression in the patient, and to reduce costs onto the national health budget. In diseases where no effective treatment is yet available, such as in Retinitis Pigmentosa, new therapeutic strategies are being developed every year, mainly designed to minimize the pathogenic effect of the genetic mutation in the cases where the molecular basis of the disease is known. These emerging therapies require now, and will require in the future, an accurate genetic diagnosis, which OrigoGEN can deliver.