Variant Names: 
Jarcho-Levin syndrome, Spondylothoracic dysostosis

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

By gene: HES7
Sanger Sequencing
Test Code: 1429
Deletion / Duplication
Test Code: 1430
NGS/Del Dup Comprehensive
Test Code: 1650

Related Panels

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 1 to 2 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: 2 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: 2 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)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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