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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
  • Preparation for prenatal testing in future pregnancies

Lab Method

  • Next-Gen Sequencing

Important Information

If an affected individual is found by Slice-EB to have only a single mutation in a gene with recessive inheritance, deletion/duplication analysis of that gene can be performed at no additional cost. Patient samples sent for Slice will not be evaluated for secondary findings and therefore will not receive secondary findings as part of their result.

Test Code

707

CPT Codes*

81406x2, 81479x1

ABN Required

No

Turnaround Time**

6 weeks (4 weeks for newborns < 1 month)

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.

**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.