Osteogenesis Imperfecta Panel

Concurrent analysis of multiple genes associated with osteogenesis imperfecta, characterized by bone fragility and susceptibility to bone fractures. 

NY Approved

Test Overview

Clinical Utility

  • Diagnosis in a patient based on clinical or radiographic findings suggestive of osteogenesis imperfecta
  • Diagnosis for known familial pathogenic variant(s)
  • Distinguish between the different causes and forms of skeletal dysplasias
  • Genetic counseling, especially regarding recurrence risk

Test Details

Genes

ALPL, ANO5, B3GAT3, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, WNT1

Conditions

  • Osteogenesis Imperfecta (OI)

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: J797
CPT Codes*: 81406x2, 81408x2, 81479x3
ABN Required: No
Turnaround Time**: 4 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs | Extracted DNA

*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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs