RETINITIS PIGMENTOSA: CLINICAL EXOME PANEL (Sec. & CNVs) – 226 genes

This clinical exome panel is designed for the genetic study of patients with suspected retinitis pigmentosa, the most common inherited retinal dystrophy and a leading cause of progressive blindness. It is characterized by the degeneration of photoreceptors, initially rods and subsequently cones, manifesting as night blindness, progressive visual field loss, and decreased central visual acuity in advanced stages. This panel detects pathogenic variants and copy number variations (CNVs) in genes responsible for autosomal dominant, recessive, and X-linked forms, both isolated and syndromic. It includes key genes involved in phototransduction, photoreceptor maintenance, and the retinal pigment epithelium, such as RHO, RP1, RP2, RPGR, RPE65, PRPH2, PDE6A, PDE6B, CNGB1, CNGA1, CRX, NR2E3, NRL, IMPDH1, PRPF31, PRPF8, PROM1, BEST1, USH2A, EYS, CEP290, CRB1, TULP1, AIPL1, NMNAT1, MERTK, ABCA4, ROM1, RS1, SAG, and others. Genetic analysis using this panel allows for confirmation of clinical diagnoses, establishment of genotype-phenotype correlations, guidance of family genetic counseling, identification of carriers, and determination of eligibility for gene therapies and clinical trials currently underway. For the complete panel of genes studied, please contact Genótica.