Number of Panel Genes: 
4

Robinow syndrome is a short-limbed dwarfism characterized by distinctive facial features, genital hypoplasia, abnormal vertebral segmentation, and normal intellect. Facial features include frontal bossing, midfacial hypoplasia, prominent eyes, hypertelorism, and a short nose with depressed nasal bridge and tented upper lip. Other findings can include macrocephaly and renal abnormalities.

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Tests Available

4 Panel Genes: DVL1, DVL3, ROR2, WNT5A
Next Generation Sequencing
$1,190
Test Code: 2127
Deletion / Duplication
$990
Test Code: 2128
NGS/Del Dup Comprehensive
$1,565
Test Code: 2129

Test Details

Technical Information
Panel Genes: 
DVL1, DVL3, ROR2, WNT5A
Disease Groups: 
Limb Hypoplasia - Reduction Defects
Skeletal Dysplasias
MIM: 
180700
616331
268310
Billing
Price: 
$1,190
CPT Codes: 
81479 x 4
Ordering
SKU:
2127
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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