Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at

SH3BP2 Gene Sequencing



Clinical Utility:
  • Confirmation of a clinical diagnosis
  • To differentiate Cherubism from other disorders with cystic jaw lesions (as described above)
  • Risk assessment
  • Prenatal diagnosis in families with an affected child and known mutation
Lab Method:
Capillary Sequencing


Test Code:
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube


CPT Codes:
New York Approved:
ABN Required:
Billing Information:
View Billing Policy
ICD Codes:
  • 526.89: Other Cherubism Fibrous dysplasia of jaw(s), Latent bone cyst of jaw(s), Osteoradionecrosis of jaw(s), Unilateral condylar hyperplasia or hypoplasia of mandible
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  1. Pina-Nito, J.M. et al. Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis. Am J Med Genet. 25: 433-41, 1986
  2. van Capelle, C.I. et al. Neurofibromatosis presenting with a cherubism phenotype. Eur J Pediatr. 166: 905-9, 2007
  3. Martinez-Tello, F.J. et al. Cherubism associated with neurofibromatosis type 1, and multiple osteolytic lesions of both femurs: a previously undescribed association of findings. Skeletal Radiol. 34: 793-8, 2005
  4. Anderson, D.E. and McClendon J.L., Cherubismhereditary fibrous dysplasia of the jaws; I genetic considerations. Oral Surg Oral Med Oral Pathol. 15 Suppl 2: 5- 16, 1962
  5. Peters, W.J., Cherubism: a study of twenty cases from one family. Oral Surg Oral Med Oral Pathol. 47: 307-11, 1979
  6. Lietman, S.A. et al., Identification of a Novel Mutation of SH3BP2 in Cherubism and Demonstration that SH3BP2 Mutations Lead to Increased BFAT Activation. Hum Mutat. 27:717-8, 2006
  7. Ueki, Y. et al., Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet. 28:125-125, 2001
  8. de Lange, J. et al., A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism. Oral Surg Oral Med Oral Path Oral Radiol Endod. 103:378-81, 2007
  9. Li, Cui Ying and Yu, Shi Feng, A novel mutation in the SH3BP2 gene causes cherubism: case report BMC Med Genet. 7: 84, 2006
  10. Imai, Y. et al., A Missense Mutation in the SH3BP2 Gene on Chromosome 4p16.3 Found in a Case of Nonfamilial Cherubism. Cleft Palate Craniofac J. 40:632-8, 2003
  11. Lo, B. et al., Novel mutation in the gene encoding c-Abl binding protein SH3BP2 causes cherubism. Am J Med Genet A. 121:37-40, 2003

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