Number of Panel Genes: 
19

The vitreoretinopathy is a group of genetically and clinically heterogeneous disorders including exudative vitreoretinopathy, Knobloch syndrome, Snowflake vitreoretinal degeneration, Stickler syndrome, and Wagner syndrome.read more

Tests Available

19 Panel Genes: BEST1, CAPN5, FZD4, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL18A1, KCNJ13, KIF11, LRP5, NDP, NR2E3, RS1, TSPAN12, VCAN, ZNF408
Next Generation Sequencing
$1,490
Test Code: 5227
Deletion / Duplication
$1,150
Test Code: 5228
NGS/Del Dup Comprehensive
$2,490
Test Code: 5229

Test Details

Technical Information
Panel Genes: 
BEST1, CAPN5, FZD4, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL18A1, KCNJ13, KIF11, LRP5, NDP, NR2E3, RS1, TSPAN12, VCAN, ZNF408
Disease Groups: 
Eye Disorders
Billing
Price: 
$1,490
CPT Codes: 
81404 x 1
81406 x 2
81479 x 16
Ordering
SKU:
5227
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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