GeneDx offers a molecular test for patients with Primary Open Angle Glaucoma (POAG) and Primary Congenital Glaucoma (PCG). In POAG, patients may develop high intraocular pressure, visual field loss, and optic disc damage, ultimately requiring early surgical therapy. The characteristic clinical features of PCG include tearing, photophobia, corneal edema and buphthalmos resulting from elevated intraocular pressure, which can rapidly lead to axonal loss and permanent loss of vision if left untreated. PCG is predominantly caused by mutations in the CYP1B1 gene, while mutations in the genes MYOC, OPTN, and WDR36 are associated with POAG.

GeneDx offers DNA sequencing analysis of the coding regions of the MYOC and CYP1B1 genes. Identifying the causative mutation(s) in a patient allows the physician to confirm the clinical diagnosis, enables carrier and presymptomatic testing of family members, helps to determine the recurrence risks in a family, and offers the possibility of prenatal diagnosis in at-risk pregnancies.