Autosomal Dominant Osteogenesis Imperfecta Panel

Concurrent analysis of the COL1A1, COL1A2, and IFITM5 genes associated with autosomal dominant forms of 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

COL1A1, COL1A2, IFITM5

Conditions

  • Osteogenesis Imperfecta (OI)

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: T992
CPT Codes*: 81408x2, 81479x1
ABN Required: No
Turnaround Time**: 3 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