CORNEAL DYSTROPHY AND CORNEAL DISORDERS: CLINICAL EXOME PANEL (Sec. & CNVs) – 75 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
This panel is designed for the genetic diagnosis of corneal dystrophies and other inherited corneal disorders, a heterogeneous group of diseases affecting corneal transparency, structure, and function. It includes conditions such as Fuchs endothelial corneal dystrophy, granular dystrophy, macular dystrophy, keratoconus, and ocular syndromes with secondary corneal involvement. The study identifies pathogenic variants associated with deposit formation, collagen alterations, or defects in the corneal epithelium and endothelium. Genes analyzed include: TGFBI, ZEB1, KRT3, KRT12, COL8A2, DCN, PIKFYVE, SLC4A11, TACSTD2, VSX1, and others. For a complete list of analyzed genes, please contact Genotica.
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