To ensure that a patient’s test is billed to their 2024 health benefits, testing must be started before the end of the year. For exome, genome, or Xpanded testing, if you do not expect parental samples to be received before the end of the year, please contact us at [email protected] to determine how to proceed.

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, 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.

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