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Epidermolysis Bullosa (EB) Slice

New York
Approved

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

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

Clinical Utility

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

Lab Method

  • Next-Gen Sequencing

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.

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