Epidermolysis Bullosa Panel

Epidermolysis Bullosa Panel 

Epidermolysis_Bullosa Panel is a 30 gene test for genetic diagnostics of patients with clinical suspicion of congenital epidermolysis bullosa.

About Epidermolysis Bullosa

Epidermolysis_bullosa simplex (EBS) is usually characterized by skin fragility and rarely mucosal epithelia that results in non-scarring blisters caused by mild or no trauma. The current classification of epidermolysis bullosa includes two major types and 12 minor subtypes. They all share the common feature of blistering above the dermal-epidermal junction at the ultrastructural level. The four most common subtypes of EBS are: 1) localized EBS (EBS-loc; also known as Weber-Cockayne type), 2) Dowling-Meara type EBS (EBS-DM), 3) other generalized EBS(EBS, gen-nonDM; also known as Koebner type) and 4) EBS-with mottled pigmentation (EBS-MP). Skin biopsy from fresh blister is considered mandatory for diagnostics of generalized forms of EBS. The prevalence of EBS is is estimated to be 1:30,000 - 50,000. EBS-loc is the most prevalent as it does not result in neonatal death. EBS-DM and EBS-gen-nonDM are rare, and EBS-MP is even rarer. Penetrance is 100% for known KRT5 and KRT14 mutations. Location of the mutations within functional domains of KRT5and KRT14 has shown to predict EBS phenotype.

Genes in the Epidermolysis Bullosa Panel and their clinical significance

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