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
$445
Test Code: 1805
Deletion / Duplication
$680
Test Code: 1806
Sanger/Del Dup Comprehensive
$1,025
Test Code: 1807

Related Panels
Dense bone dysplasia NGS panel (14 genes)
NGS $1,320
Del Dup $990
Comp $1,695
Osteopetrosis and Dense bone dysplasia NGS panel (28 genes)
NGS $1,620
Del Dup $990
Comp $1,995

Test Details

Technical Information
Genes: 
SOST
Disease Groups: 
Osteopetrosis and High Bone Density Disorders
MIM: 
239100
Billing
Price: 
$445
CPT Codes: 
81479 x 1
Ordering
SKU:
1805
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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