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

Detalhes bibliográficos
Autor(a) principal: Mariath, Luiza Monteavaro
Data de Publicação: 2021
Outros Autores: Kiszewski, Ana Elisa, Frantz, Jeanine Aparecida, Siebert, Marina, Matte, Ursula da Silveira, Faccini, Lavinia Schuler
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/232203
Resumo: 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.
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spelling Mariath, Luiza MonteavaroKiszewski, Ana ElisaFrantz, Jeanine AparecidaSiebert, MarinaMatte, Ursula da SilveiraFaccini, Lavinia Schuler2021-11-25T04:38:23Z20210365-0596http://hdl.handle.net/10183/232203001133144Background: 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.application/pdfengAnais brasileiros de dermatologia. Rio de Janeiro. Vol. 96, n. 2 (2021), p. 155-162.DiagnósticoEpidermólise bolhosaAconselhamento genéticoTestes genéticosGenetic counselingDiagnosisEpidermolysis bullosaGenetic testingGene panel for the diagnosis of epidermolysis bullosa : proposal for a viable and efficient approachinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001133144.pdf.txt001133144.pdf.txtExtracted Texttext/plain37147http://www.lume.ufrgs.br/bitstream/10183/232203/2/001133144.pdf.txtd8726387dfeab09b31bdfae311792dc6MD52ORIGINAL001133144.pdfTexto completo (inglês)application/pdf886836http://www.lume.ufrgs.br/bitstream/10183/232203/1/001133144.pdfe25f57973af93c22d4cc94da129486a4MD5110183/2322032022-11-12 05:59:41.516417oai:www.lume.ufrgs.br:10183/232203Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2022-11-12T07:59:41Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Gene panel for the diagnosis of epidermolysis bullosa : proposal for a viable and efficient approach
title Gene panel for the diagnosis of epidermolysis bullosa : proposal for a viable and efficient approach
spellingShingle Gene panel for the diagnosis of epidermolysis bullosa : proposal for a viable and efficient approach
Mariath, Luiza Monteavaro
Diagnóstico
Epidermólise bolhosa
Aconselhamento genético
Testes genéticos
Genetic counseling
Diagnosis
Epidermolysis bullosa
Genetic testing
title_short Gene panel for the diagnosis of epidermolysis bullosa : proposal for a viable and efficient approach
title_full Gene panel for the diagnosis of epidermolysis bullosa : proposal for a viable and efficient approach
title_fullStr Gene panel for the diagnosis of epidermolysis bullosa : proposal for a viable and efficient approach
title_full_unstemmed Gene panel for the diagnosis of epidermolysis bullosa : proposal for a viable and efficient approach
title_sort Gene panel for the diagnosis of epidermolysis bullosa : proposal for a viable and efficient approach
author Mariath, Luiza Monteavaro
author_facet Mariath, Luiza Monteavaro
Kiszewski, Ana Elisa
Frantz, Jeanine Aparecida
Siebert, Marina
Matte, Ursula da Silveira
Faccini, Lavinia Schuler
author_role author
author2 Kiszewski, Ana Elisa
Frantz, Jeanine Aparecida
Siebert, Marina
Matte, Ursula da Silveira
Faccini, Lavinia Schuler
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Mariath, Luiza Monteavaro
Kiszewski, Ana Elisa
Frantz, Jeanine Aparecida
Siebert, Marina
Matte, Ursula da Silveira
Faccini, Lavinia Schuler
dc.subject.por.fl_str_mv Diagnóstico
Epidermólise bolhosa
Aconselhamento genético
Testes genéticos
topic Diagnóstico
Epidermólise bolhosa
Aconselhamento genético
Testes genéticos
Genetic counseling
Diagnosis
Epidermolysis bullosa
Genetic testing
dc.subject.eng.fl_str_mv Genetic counseling
Diagnosis
Epidermolysis bullosa
Genetic testing
description 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.
publishDate 2021
dc.date.accessioned.fl_str_mv 2021-11-25T04:38:23Z
dc.date.issued.fl_str_mv 2021
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/other
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10183/232203
dc.identifier.issn.pt_BR.fl_str_mv 0365-0596
dc.identifier.nrb.pt_BR.fl_str_mv 001133144
identifier_str_mv 0365-0596
001133144
url http://hdl.handle.net/10183/232203
dc.language.iso.fl_str_mv eng
language eng
dc.relation.ispartof.pt_BR.fl_str_mv Anais brasileiros de dermatologia. Rio de Janeiro. Vol. 96, n. 2 (2021), p. 155-162.
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFRGS
instname:Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
instname_str Universidade Federal do Rio Grande do Sul (UFRGS)
instacron_str UFRGS
institution UFRGS
reponame_str Repositório Institucional da UFRGS
collection Repositório Institucional da UFRGS
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