Gene panel for the diagnosis of epidermolysis bullosa : proposal for a viable and efficient approach
Visualizar/abrir
Data
2021Autor
Tipo
Assunto
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 ...
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. ...
Contido em
Anais brasileiros de dermatologia. Rio de Janeiro. Vol. 96, n. 2 (2021), p. 155-162.
Origem
Nacional
Coleções
-
Artigos de Periódicos (39559)Ciências da Saúde (10608)
-
Artigos de Periódicos (39559)Ciências Biológicas (3082)
Este item está licenciado na Creative Commons License