Genetic Testing and Counseling
Genetic sequencing for mutations causing inherited eye diseases in Texas (Texas 1000 Project)
We are identifying disease-causing mutations using next-generation sequencing of 163 genes known to cause retinal degenerative diseases. As of July 2018, we have identified and genotyped more than 755 new patients and 400 at-risk relatives with retinal degenerative diseases. Our detection rate for mutation identification is approximately 75%, which is in line with other state-of-the-art detection rates.
Genetic counseling for families with an inherited eye disease
We advise patients and relatives at risk of an inherited eye disease of the consequences and nature of their disease, the probability of developing it, and the options open to them in management and family planning.
