Campomelic dysplasia (CMPD; MIM 114290) is an autosomal dominant skeletal dysplasia characterized by shortening and angular bowing of the long bones, hypoplastic scapulae, 11 pairs of ribs, lack of mineralization of thoracic pedicles, cervical spine and pelvic malformations, clubfeet and Pierre Robin sequence. Tracheobronchomalacia causes respiratory problems that often lead to death during the neonatal more

Tests Available

By gene: SOX9
Next Generation Sequencing
Test Code: 1072
Deletion / Duplication
Test Code: 1073
NGS/Del Dup Comprehensive
Test Code: 1491

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
CPT Codes: 
81479 x 1
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: 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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