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Craniofrontonasal dysplasia (EFNB1)


Genes

EFNB1

Conditions

  • Craniofrontonasal syndrome

Clinical Utility

  • Confirmation of a clinical diagnosis
  • Risk assessment
  • Prenatal diagnosis in families with a known mutation

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code

TB26

CPT Codes*

81479x1

ABN Required

No

Turnaround Time**

3 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.