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Campomelic Dysplasia (SOX9)


Genes

SOX9

Conditions

  • Campomelic Dysplasia (CD)

Clinical Utility

  • Confirmation of the clinical diagnosis
  • To differentiate CD from other skeletal dysplasias such as osteogenesis imperfecta (OI), thanatophoric dysplasia, spondyloepiphyseal dysplasia congenita, and others
  • Prenatal diagnosis for a known familial mutation
  • Prenatal diagnosis when ultrasound findings are suggestive of campomelic dysplasia

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code

TA74

CPT Codes*

81479x1

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Dried Blood Spots

*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.