Vitreoretinopathy: Deletion/Duplication Panel

Condition Description

Vitreoretinopathy is a general term used to describe retinal disease that also affects the vitreous body. Several types of vitreoretinopathies exist giving rise to a spectrum of phenotypic presentations such as retinal detachment (or traction), optically empty vitreous, fibrillary condensation, cataract, and neovascularization. The condition includes, but is not limited to, familial exudative vitreoretinopathy, Norrie disease, Wagner syndrome, snowflake vitreoretinal degeneration, Stickler syndrome and retinal vasculopathy with cerebral leukodystrophy. The vitreoretinopathies may be inherited in an autosomal dominant, autosomal recessive or X-linked manner (complex inheritance has also been suggested).

  • A. O. Edwards (2008) Eye 22, 1233–1242
  • Daiger et al. (1998) Invest Ophthalmol Vis Sci 39:S295.
  • OMIM
  • GeneReviews

Genes (9)

Your search may have returned a result for a gene alias. Click here for a full list of genes and their aliases.


This test is indicated for:
  • Confirmation of a clinical diagnosis of vitreoretinopathy.
  • Carrier testing in adults with a family history of vitreoretinopathy.


Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.


Deletion/Duplication: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic pathogenic variants. Results of molecular analysis must be interpreted in the context of the patient\'s clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (
Submit only 1 of the following specimen types
Whole Blood (EDTA)

EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.
DNA, Isolated

Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.

Special Instructions

Please include fundus photographs, electroretinogram (ERG) findings, visual field findings, and visual acuity, if available, for expert review and clinical correlation with test results.
  • Eye Disorders: Comprehensive Sequencing and Deletion/Duplication Panels.
  • Vitreoretinopathy: Sequencing Panel.

How to Order