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 period.read more

Tests Available

By gene: SOX9
Sanger Sequencing
$780
Test Code: 1072
Deletion / Duplication
$680
Test Code: 1073
Sanger/Del Dup Comprehensive
$1,360
Test Code: 1491

Related Panels
Skeletal dysplasia core & extended NGS panel (29 genes)
NGS $1,620
Del Dup $990
Comp $1,995
Skeletal dysplasia core NGS panel (10 genes)
NGS $1,220
Del Dup $990
Comp $1,595

Test Details

Technical Information
Genes: 
SOX9
Disease Groups: 
Skeletal Dysplasias
MIM: 
114290
Billing
Price: 
$780
CPT Codes: 
81479 x 1
Ordering
SKU:
1072
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: minimum of 10 µg (at a concentration of at least 50 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: 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.

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