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: TSPAN12
Sanger Sequencing
$730
Test Code: 1397
Deletion / Duplication
$680
Test Code: 1398
Sanger/Del Dup Comprehensive
$1,310
Test Code: 1547

Related Panels
Exudative vitreoretinopathy NGS panel (7 genes)
NGS $1,150
Del Dup $990
Comp $1,990

Test Details

Technical Information
Genes: 
TSPAN12
Disease Groups: 
Eye Disorders
MIM: 
613310
Billing
Price: 
$730
CPT Codes: 
81479 x 1
Ordering
SKU:
1397
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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