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: RIPPLY2
|
Sanger Sequencing
$590
Test Code: 2342
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Deletion / Duplication
$900
Test Code: 2350
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NGS/Del Dup Comprehensive
$1,100
Test Code: 2351
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Test Details
Technical Information
Genes:
RIPPLY2
Disease Groups:
Skeletal Dysplasias
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
2342 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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 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: 2 confluent T-25 flasks derived from amnio or CVS samples
- 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.