Retinal Disorders Panel

The Retinal Disorders Panel analyzes genes that are associated with inherited retinal disorders, including but not limited to retinitis pigmentosa (RP), cone-rod dystrophy, and Leber congenital amaurosis. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Some genes in this test may also be associated with additional unrelated disorders, which are not included in the list of disorders tested. Genetic testing of these genes may help confirm a clinical diagnosis and provide information for recurrence-risk estimation and genetic counseling. This panel includes the RPGR gene, including exon 15 (ORF15), which is preferentially expressed in the retina, and is associated with X-linked RP.