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Epidermolysis Bullosa, Dystrophic (COL7A1)


Genes

COL7A1

Conditions

  • Dystrophic Epidermolysis Bullosa (DEB)
  • Epidermolysis Bullosa Dystrophica

Clinical Utility

  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and defined mutation

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code

TA53

CPT Codes*

81479x1

ABN Required

No

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.