NOW AVAILABLE! XomeDxSlice – 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.
Depending on the clinical sub-type, blistering begins in the neonatal period and continues throughout life. Blisters are usually generalized and include oral and esophageal lesions. The Herlitz form is severe and usually results in demise during the first year of life, while the non-Herlitz, mitis and GABEB forms are less severe and affected individuals usually survive to adulthood. The tissue separation (blister) occurs within the lamina lucida of the basement membrane and anchoring filaments may be reduced or absent. Blisters generally heal without scarring.