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
$990
Test Code: 1147
Deletion / Duplication
$680
Test Code: 1148
NGS/Del Dup Comprehensive
$1,570
Test Code: 1546

Related Panels
Exudative vitreoretinopathy NGS panel (7 genes)
NGS $1,150
Del Dup $990
Comp $1,990
Osteopetrosis NGS panel (14 genes)
NGS $1,470
Del Dup $1,150
Comp $2,470

Test Details

Technical Information
Genes: 
LRP5
Disease Groups: 
Eye Disorders
MIM: 
601813
Billing
Price: 
$990
CPT Codes: 
81406 x 1
Ordering
SKU:
1147
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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