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
Next Generation Sequencing
$990
Test Code: 1397
Deletion / Duplication
$990
Test Code: 1398
NGS/Del Dup Comprehensive
$1,365
Test Code: 1547

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

Test Details

Technical Information
Genes: 
TSPAN12
Disease Groups: 
Eye Disorders
MIM: 
613310
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1397
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: 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

Search Tests

TIP: enter a partial disorder name or gene to widen your search