CONE-ROD DYSTROPHY: CLINICAL EXOME PANEL (Sec. & CNVs) – 53 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Cone and Rod Dystrophies panel analyzes the genetic causes of a group of degenerative retinal diseases characterized by progressive loss of central vision, color vision deficiencies, and, in advanced stages, impairment of night and peripheral vision. These dystrophies include isolated and syndromic forms and clinically overlap with retinitis pigmentosa, Leber congenital amaurosis, and achromatopsia. The study includes genes involved in phototransduction, photoreceptor maintenance, and retinal pigment epithelium function. Genes analyzed include: ABCA4, CNGA3, CNGB3, CRX, GUCY2D, PRPH2, PROM1, PDE6C, BEST1, EYS, and others. You can consult the complete list of analyzed genes by contacting Genotica.
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