301-519-2100 • FAX 301-519-2892 • 207 PERRY PARKWAY GAITHERSBURG, MD 20877
SEARCH
Familial Exudative Vitreoretinopathy (FEVR)
FZD4 (Frizzled homolog 4)
LRP5 (Low density lipoprotein receptor-related protein 5)
TSPAN12 (Tetraspanin 12)
NDP (Norrie disease (pseudoglioma))
Familial Exudative Vitreoretinopathy (FEVR) is a hereditary disorder 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. The most serious complications may result in complete blindness.
Using genomic DNA obtained from a venous blood sample (1-5 mL in EDTA) or buccal swabs (GeneDx kit only), GeneDx offers bi-directional sequence analysis of the coding exons and intron/exon boundaries of the FZD4, LRP5, TSPAN12 and NDP genes as separate tests, which can be performed sequentially or concurrently. Sequence analysis of the FZD4, TSPAN12, and LRP5 genes, is expected to reveal pathogenic mutations in 19-65% of patients with autosomal dominant FEVR. While, sequence analysis of the NDP gene is expected to reveal a pathogenic mutation in approximately 13% of male patients. For NDP gene analysis in females, sequence analysis in combination with targeted array CGH analysis with exon-level resolution (ExonArrayDx) would be performed. Partial deletions of the LRP5 gene are estimated to account for approximately 5% of the mutations. Targeted array CGH analysis with exon-level resolution (ExonArrayDx) is available to evaluate for a deletion or duplication of one or more exons of each gene.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
FEVR, FZD4, LRP5, TSPAN12, Familial, exudative, vitreoretinopathy, retinopathy, vitreo, viteo, viteoretinopathy, FERV, FDZ4, LPR5, retinal, retina, macula, blind, blindness, hemorrhage, vitreous
© 2000 - 2012 GeneDx. All rights reserved.
