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.
read moreTests Available
4 Panel Genes: DVL1, DVL3, ROR2, WNT5A
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Next Generation Sequencing
$1,190
Test Code: 2127
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Deletion / Duplication
$990
Test Code: 2128
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NGS/Del Dup Comprehensive
$1,565
Test Code: 2129
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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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
- Fibroblasts: 4 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
- 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.
