Epidermolysis Bullosa (EB)


Using whole exome capture and sequencing, ALL of the known genes for the various forms of Epidermolysis Bullosa (Dystrophica, Simplex, Junctional) can be analyzed at one time, achieving substantial savings in both cost and time, with little loss of sensitivity. In most cases, this should now be the test of first choice for a new patient with the diagnosis of Epidermolysis Bullosa.

Epidermolysis Bullosa (EB) is an inherited skin and connective tissue disease that causes bullae (blisters) with mild trauma. The severity of the disorder depends on the layer of skin where the tissue separation occurs. In EB Simplex the blisters occur in the basal layer of the epidermis and do not leave scars. Most cases are caused by a mutation in either KRT5 or KRT14, and the disorder usually follows an autosomal dominant inheritance pattern, although autosomal recessive cases have been reported. Dystrophic EB (DEB) is a disorder with a range of severity from very severe to relatively mild. The blisters are caused by abnormalities of the anchoring fibrils, which are made up of type VII collagen, that attach the epidermis to the underlying dermis. Mutations in the COL7A1 gene can be autosomal dominant or recessive, and the blisters leave scars. Junctional EB is a heterogeneous disorder with the blisters occurring within or just above the lamina lucida (between the dermis and epidermis). In most cases, the blisters do not result in scarring. Junctional EB can be mild or severe and even lethal in the neonatal period; however surviving patients may improve with age. Mutations in several different genes can result in Junctional EB (virtually all recessive), including LAMA3, LAMB3, LAMC2, ITGA6, ITGB4, and COL17A1. There are also variant forms of EB in which other phenotypic features are found, including EB with pyloric atresia caused by mutations in the ITGA6, ITGB4 or PLEC1 gene, EB with muscular dystrophy (EB-MD) caused by mutations in the PLEC1 gene and variant forms of DEB in which only nails are affected (COL7A1). Additionally, there is considerable overlap in some features such as ITGB4 mutations causing EB without pyloric atresia but with associated urinary and gastrointestinal tract abnormalities. The variety of genes, and their relative complexity makes genetic testing challenging and a skin biopsy studied with antibodies to the various skin proteins by indirect immunofluorescence can help elucidate the type of EB and to inform the testing and mutation/gene assignment to be identified by XomeDxSlice - EB testing.

Tests Available

Forms and Documents

Test Details

  • Identification of the specific molecular basis of a hereditary blistering disorder
  • Genetic counseling and recurrence risk assessment
  • Preparation for prenatal testing in future pregnancies

If an affected individual is found by XomeDxSlice-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 XomeDxSlice will not be evaluated for secondary findings and therefore will not receive secondary findings as part of their result.


6 weeks (4 weeks for newborns <1 month)
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


81406x2, 81479x1
For price inquiries please email zebras@genedx.com

**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.


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