Craniodiaphyseal dysplasia (CDD; MIM 122860) is a rare sclerosing bone dysplasia characterized by severe hyperostosis and sclerosis, particularly of the skull and facial bones.  The bone overgrowth is so profound it results in facial distortion, respiratory obstruction due to choanal stenosis, destruction of the sinuses, hearing loss, optic nerve atrophy, increased intracranial pressure, and stenosis of the cranial foramina.  The long bones show an extremeread more

Tests Available

By gene: SOST
Sanger Sequencing
$445
Test Code: 1787
Deletion / Duplication
$680
Test Code: 1788
Sanger/Del Dup Comprehensive
$1,025
Test Code: 1789

Related Panels
Osteopetrosis and Dense bone dysplasia NGS panel (28 genes)
NGS $1,990
Del Dup $1,300
Comp $3,140
Dense bone dysplasia NGS panel (14 genes)
NGS $1,370
Del Dup $1,150
Comp $2,370

Test Details

Technical Information
Genes: 
SOST
Disease Groups: 
Osteopetrosis and High Bone Density Disorders
MIM: 
122860
Billing
Price: 
$445
CPT Codes: 
81479 x 1
Ordering
SKU:
1787
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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