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Oral-Facial-Digital Syndrome Type 1 (OFD1, aka CXORF5)




  • Oral-Facial-Digital syndrome Type 1

Clinical Utility

  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Identify females that are at risk for PKD to allow for appropriate screening and treatment
  • Differentiation from other types of OFD
  • Prenatal diagnosis

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code


CPT Codes*


ABN Required


Turnaround Time**

3 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*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.