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: NDP
Sanger Sequencing
$570
Test Code: 1395
Deletion / Duplication
$680
Test Code: 1396
Sanger/Del Dup Comprehensive
$1,150
Test Code: 1545

Related Panels
Exudative vitreoretinopathy NGS panel (7 genes)
NGS $1,120
Del Dup $990
Comp $1,495

Test Details

Technical Information
Genes: 
NDP
Disease Groups: 
Eye Disorders
MIM: 
305390
Billing
Price: 
$570
CPT Codes: 
81404 x 1
Ordering
SKU:
1395
Turnaround Time: 
Typically 1 to 2 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 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: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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