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SH3BP2 Gene Sequencing


Genes

SH3BP2

Conditions

  • Cherubism

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

285

CPT Codes*

81479x1

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.