Epidermolysis Bullosa, Dystrophic (COL7A1)
Genes
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
Alternative Specimen
*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.
Test Documents
Billing
Targeted Variant Testing