FZD4, LRP5, NDP, TSPAN12
- Familial Exudative Vitreoretinopathy
- Poor vascularization of the peripheral retina seen on fundus fluorescein angiography
- Vision loss in addition to retinal detachment, dragged macula, neovascularization, whiteness of the pupil (leukocoria), intraretinal hemorrhage and exudation
- Osteopenia and osteoporosis in addition to ocular findings above
- Potentially normal vision and absence of any ocular symptoms despite abnormal retinal blood vessels development
- Exon Array Dx
- Sanger/ABI sequencing
81403x1; 81404x1; 81406x1; 81479x1
*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.
Targeted Variant Testing