CPT® Code 81434

Hereditary retinal disorders (eg, retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophy), genomic sequence analysis panel, must include sequencing of at least 15 genes, including ABCA4, CNGA1, CRB1, EYS, PDE6A, PDE6B, PRPF31, PRPH2, RDH12, RHO, RP1, RP2, RPE65, RPGR, and USH2A

Molecular genetic testing is a critical procedure utilized to identify hereditary retinal disorders, which include conditions such as retinitis pigmentosa, Leber congenital amaurosis, and cone-rod dystrophy. These disorders can manifest at birth or may develop later in life, leading to progressive vision loss characterized by symptoms such as night blindness and distortion of vision. The testing process involves the use of a genomic sequence analysis panel that must include the sequencing of at least 15 specific genes known to be associated with these conditions. The genes included in this analysis are ABCA4, CNGA1, CRB1, EYS, PDE6A, PDE6B, PRPF31, PRPH2, RDH12, RHO, RP1, RP2, RPE65, RPGR, and USH2A. During the testing, targeted gene segments, known as exons, are extracted from a whole blood specimen. These segments are then enriched through a process called hybridization, which allows for the selective capture of the regions of interest. Following this, next-generation sequencing technology is employed to detect any mutations present within these genes. The results of this genetic testing can be pivotal in confirming a clinical diagnosis for both syndromic and non-syndromic eye disorders. Additionally, it can identify adults who may carry familial germline mutations, providing valuable information for genetic counseling and potential future interventions.