Genetic Test
LTBP2 (Latent Transforming Growth Factor Beta Binding Protein 2) is a gene responsible for encoding extracellular matrix proteins involved in cell adhesion, microfibril structure, and growth factor complexes. This genetic test targets one specific gene variant associated with primary congenital glaucoma type 3.
Disease Description
Primary congenital glaucoma is a hereditary condition that leads to blindness due to damage to retinal ganglion cells and the optic nerve. It is known to result from mutations in the LTBP2 gene, which encodes an extracellular matrix protein crucial for maintaining proper cell adhesion.
