Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GUCY2D

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GUCY2D

Definition : Molecular assay reagents intended to identify mutations in the guanylate cyclase 2D, membrane (retina-specific) (GUCY2D) gene, located at chromosome 17p13.1, which encodes for a protein that may function in the rods and/or cones of photoreceptors. Mutations at this locus have been identified in patients with early-infant-onset Leber's congenital amaurosis and cone-rod dystrophy.

Entry Terms : "Cone-Rod Dystrophy Gene Mutation Detection Reagents" , "Leber Congenital Amaurosis Gene Mutation Detection Reagents" , "GUCY2D Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, GUCY2D"

UMDC code : 24453

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