Eye Disorder NGS panel

Identify genes and variants in various eye diseases.

The eye disorder panels consist of multiple panels for various eye disorders including, but not limited to: retinal disorders, optic nerve disorders, corneal diseases, structural diseases, eye movement diseases, glaucoma, cataract, and myopia. Combined, these panels analyze 81 genes.

Panels for inherited retinal diseases include both syndromic and non-syndromic retinal diseases. A majority of retinal diseases are non-syndromic and limited to an ocular phenotype. However, a minority of retinal diseases are syndromic and have a border phenotype involving multiple organ systems.

Panels for syndromic retinal diseases include: Usher Syndrome, Joubert Syndrome, Senior-Loken Syndrome, Stickler Syndrome, and Bardet-Biedl Syndrome.

Panels for non-syndromic retinal disorders include: Retinitis Pigmentosa, Leber Congenital Amaurosis, Macular Dystrophy, Stargardt Disease, Cone-rod Dystrophy, Exudative Vitreoretinopathy, and Achromatopsia.

Identifying the genes and variants involved in various eye diseases can assist in clinical management. In addition, identifying targeted therapies may reduce risk of disease occurrence and recurrence in families at risk, can improve accuracy of genetic counseling, and may have a positive impact on individuals and families. In many eye diseases, different mutations in the same gene may result in different clinical presentations. In addition, different genes may be associated with a spectrum of variations in disease onset, progression, severity of vision loss and phenotypes can vary among family members.