TY - JOUR T1 - Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable and efficient approach JO - Anais Brasileiros de Dermatologia (Portuguese) T2 - AU - Mariath,Luiza Monteavaro AU - Kiszewski,Ana Elisa AU - Frantz,Jeanine Aparecida AU - Siebert,Marina AU - Matte,Ursula AU - Schuler-Faccini,Lavínia SN - 03650596 M3 - 10.1016/j.abd.2020.05.015 DO - 10.1016/j.abd.2020.05.015 UR - http://www.anaisdedermatologia.org.br/pt-gene-panel-for-diagnosis-epidermolysis-articulo-S036505962100012X AB - BackgroundEpidermolysis bullosa is characterized by cutaneous fragility and blistering. Historically, diagnosis is achieved by immunofluorescence mapping or transmission electron microscopy, both involving biopsy procedures. Genetic analysis, especially through next-generation sequencing, is an important tool for the diagnosis of this disease. In Brazil, access to diagnostic methods is limited, and consequently, most patients do not have an accurate diagnosis. Diagnosis allows the indication of prognosis and genetic counselling of the patient. ObjectivesTo evaluate the cost-effectiveness of a gene panel compared to immunofluorescence mapping and transmission electron microscopy by analyzing its benefits, limitations, and economic aspects. MethodsThe gene panel included the 11 main genes associated with epidermolysis bullosa. The techniques were compared, assessing the average cost, advantages, and limitations, through a price survey and literature review. ResultsBoth immunofluorescence mapping and transmission electron microscopy require skin biopsy, are dependent on the investigator’s expertise, and are subject to frequent inconclusive results. The gene panel is effective for the conclusive diagnosis of epidermolysis bullosa, presents high efficiency and accuracy, is economically feasible, and excludes the need for biopsy. The gene panel allows for prognosis, prenatal genetic diagnosis, and genetic counseling. Study limitationsIt was not possible to find laboratories that perform transmission electron microscopy for epidermolysis bullosa diagnosis in Brazil. ConclusionThis study supports the gene panel as the first-choice method for epidermolysis bullosa diagnosis. ER -