Number of Panel Genes: 
7

The exudative vitreoretinopathies are a group of genetically heterogeneous 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

7 Panel Genes: CAPN5, FZD4, KIF11, LRP5, NDP, TSPAN12, ZNF408
Next Generation Sequencing
$1,150
Test Code: 1399
Deletion / Duplication
$990
Test Code: 1548
NGS/Del Dup Comprehensive
$1,990
Test Code: 1549

Test Details

Technical Information
Panel Genes: 
CAPN5, FZD4, KIF11, LRP5, NDP, TSPAN12, ZNF408
Disease Groups: 
Eye Disorders
MIM: 
133780
305390
601813
613310
Billing
Price: 
$1,150
CPT Codes: 
81479 x 5
81404 x 1
81406 x 1
Ordering
SKU:
1399
Turnaround Time: 
Typically 3 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: 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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