Genetic testing of visual disorders is of utmost importance not only for the patients and their families, but it also has an impact on the clinical diagnosis, optimal management of the patient, genetic counseling and, of great relevance, to develop future therapies.
What does genetic diagnosis offer?
· Confirms and secures the clinical diagnosis, as the diagnostic accuracy is often blurred by phenotypic overlaps among different clinical entities.
· Identifies if a sporadic case is dominant or recessive and so allows predict the inheritance pattern of the disease in the family.
· Identifies asymptomatic carriers, non-affected family members that bear the gene mutation and can pass it on their children who can be affected
· Allows prenatal screening of the genetic variant, so that the birth defect can be detected in a fetus or embryo before it is born
· Genetic counseling, providing the patient and his relatives with information about the consequences and nature of the disorder, and the risk of transmitting it to their children.
How to order a test?
1. Budget request (download)
3. Molecular genetic testing is performed.
4. Delivery of a full molecular diagnosis and genetic counseling report to the patient and the ophthalmologist.
5. Explanatory meeting with the clinician, patient and family if requested.