DNA Diagnostic Testing for Autosomal Dominant Familial Exudative Vitreoretinopathy (FZD4, FEVR)

  • Phone: 617-726-5721

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Test Description

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

Results of DNA analysis will be communicated in a written report to the referring professional.

Reason

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.  

Updated 7/27/2012