Osteogenesis Imperfecta Panel

New York
Approved


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)

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

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

J797

CPT Codes*

81406x2, 81408x2, 81479x1

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.