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
Test Code: 1787
Deletion / Duplication
Test Code: 1788
NGS/Del Dup Comprehensive
Test Code: 1789

Test Details

Technical Information
Disease Groups: 
Osteopetrosis and High Bone Density Disorders
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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