Epidermolysis Bullosa (EB) Slice

Concurrent analysis of multiple genes associated with epidermolysis bullosa characterized by skin fragility and blisters with mild trauma.

NY Approved

Test Overview

Clinical Utility

  • Identification of the specific molecular basis of a hereditary blistering disorder
  • Genetic counseling and recurrence risk assessment

Test Details

Genes

CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSG1, DSP, DST, EXPH5, FERMT1, FLG2, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, TGM5

Conditions

  • Acral Peeling Skin Syndrome
  • Dystrophic Epidermolysis Bullosa (DEB)
  • Epidermolysis Bullosa Dystrophica
  • Epidermolysis Bullosa (EB)
  • Epidermolysis Bullosa Simplex
  • Generalized Atrophic Benign Epidermolysis Bullosa (GABEB)
  • Herlitz Junctional Epidermolysis Bullosa
  • Mitis Junctional Epidermolysis Bullosa
  • Non-Herlitz Junctional Epidermolysis Bullosa

Lab Method

  • Next-Gen Sequencing

Ordering Information

Test Code: 707
CPT Codes*: 81406x2, 81479x3
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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

Targeted Variant Testing

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