GeneDx offers a molecular test for patients with FEVR. FZD4 and LRP5 mutations result in FEVR characterized by impaired vascularization of parts of the peripheral retina leading to various secondary complications, such as retinal neovascularization, dragged macula, exudation vitreous hemorrhage, retinal fold and retinal detachment.

DNA sequencing analysis of the coding regions of the FZD4 and LRP5 genes are offered as separate tests. Identifying the causative mutations in a patient allows for carrier testing of family members, helps to determine the recurrence risks in a family, and offers the possibility of prenatal diagnosis in at-risk pregnancies.