Hyperostosis corticalis generalisata (Van Buchem disease; MIM 239100) and sclerosteosis (MIM 269500) are autosomal recessive sclerosing bone dysplasias with similar clinical and radiological findings.  Both disorders are characterized by a progressive osteosclerosis involving the skull, jaw, clavicles, ribs and long bones.  Overgrowth of the cranial and facial bones may lead to facial palsy, optic atrophy, proptosis, deafness, massive overgrowth ofread more

Tests Available

By gene: SOST
Sanger Sequencing
Test Code: 1805
Deletion / Duplication
Test Code: 1806
NGS/Del Dup Comprehensive
Test Code: 1807

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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