Gene panel for the diagnosis of epidermolysis bullosa : proposal for a viable and efficient approach

Abstract

Background: Epidermolysis bullosa is characterized by cutaneous fragility and blistering. His-torically, diagnosis is achieved by immunofluorescence mapping or transmission electronmicroscopy, both involving biopsy procedures. Genetic analysis, especially through next-generation sequencing, is an important tool for the diagnosis of this disease. In Brazil, accessto diagnostic methods is limited, and consequently, most patients do not have an accuratediagnosis. Diagnosis allows the indication of prognosis and genetic counselling of the patient.Objectives: To evaluate the cost-effectiveness of a gene panel compared to immunofluores-cence mapping and transmission electron microscopy by analyzing its benefits, limitations, andeconomic aspects.Methods: The gene panel included the 11 main genes associated with epidermolysis bullosa. Thetechniques were compared, assessing the average cost, advantages, and limitations, through aprice survey and literature review.