Familial exudative vitreoretinopathy - The exudative vitreoretinopathies (EVR) are a group of genetically heterogenous familial disorders believed to be caused by arrested peripheral retinal angiogenesis/vasculogenesis or retinal vascular differentiation. Clinical features vary, even within families, from blindness in childhood to patients with few or no visual problems who may be diagnosed only following fluorescein angiography.read more

Tests Available

By gene: LRP5
Next Generation Sequencing
Test Code: 1147
Deletion / Duplication
Test Code: 1148
NGS/Del Dup Comprehensive
Test Code: 1546

Test Details

Technical Information
Disease Groups: 
Eye Disorders
CPT Codes: 
81406 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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