Number of Panel Genes: 
6

The spondylocostal dysostoses (SCDO) are a genetically heterogeneous group of axial skeletal disorders defined by segmentation defects throughout the vertebral column in combination with rib abnormalities.  The most common radiographic findings are multiple hemivertebrae, malalignment of the ribs, intercostal rib fusions, and reduced rib number.  Clinical features include short trunk, short neck, and scoliosis.  Pulmonary hypertension and other severe respiratory complicationsread more

Tests Available

6 Panel Genes: DLL3, MESP2, LFNG, HES7, RIPPLY2, TBX6
Next Generation Sequencing
$1,100
Test Code: 1781
Deletion / Duplication
$990
Test Code: 1782
NGS/Del Dup Comprehensive
$1,940
Test Code: 1783

Test Details

Technical Information
Panel Genes: 
DLL3, MESP2, LFNG, HES7, RIPPLY2, TBX6
Disease Groups: 
Skeletal Dysplasias
MIM: 
277300
608681
609813
613686
122600
Billing
Price: 
$1,100
CPT Codes: 
81479 x 6
Ordering
SKU:
1781
Turnaround Time: 
Typically 2 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: a minimum of 3 µg (at a concentration of at least 30 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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