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: 1826
|
Deletion / Duplication
$900
Test Code: 1827
|
NGS/Del Dup Comprehensive
$1,100
Test Code: 1828
|
Test Details
Technical Information
Genes:
SOST
Disease Groups:
Osteopetrosis and High Bone Density Disorders
MIM:
269500
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1826 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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.