DNA Diagnostic Testing for Autosomal Dominant Familial Exudative Vitreoretinopathy (FZD4, FEVR)
- Phone: 617-726-5721
REQUIRED FOR ALL ORDERS
- General Requisition Form
- Test Addition Form
- NCL Checklist
- Sample Preparation
- Consent Form
- Medical Release Form
We currently offer DNA mutation analysis of the FZD4gene using PCR amplification and direct DNA sequencing of the 2 coding exons. FZD4 mutations have been found in some cases of autosomal dominant and sporadic FEVR and account for about 20-40% of FEVR cases studied. FZD4 mutations were responsible for FEVR with variable clinical manifestations.
Sample Preparation: Sample Preparation (PDF)
Results of DNA analysis will be communicated in a written report to the referring professional.
DNA analysis is also appropriate for the study of affected patients, for diagnostic confirmation in a suspected affected patient, and in prenatal testing situations after the family mutation has been identified in the proband.