FRAGILE CORNEAL SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Fragile Cornea Syndrome panel is designed for the genetic diagnosis of this rare ocular connective tissue disorder characterized by extreme corneal thinning, spontaneous corneal rupture, advanced keratoconus, high myopia, and bluish sclera. These manifestations result from alterations in genes involved in the synthesis and organization of extracellular collagen, affecting the structural integrity of the eyeball. The study allows differentiation of this syndrome from other hereditary corneal dystrophies or ectasias. Genes analyzed: ZNF469, PRDM5. You can consult the complete list of analyzed genes by contacting Genotica.
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