Data/hora: 16/06/2024 11:10:33

Provedor de dados: 	Genetics and Molecular Biology	
País: 	Brazil	
Título: 	Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders	
Autores: 	Málaga,Diana Rojas; Brusius-Facchin,Ana Carolina; Siebert,Marina; Pasqualim,Gabriela; Saraiva-Pereira,Maria Luiza; Souza,Carolina F.M de; Schwartz,Ida V.D.; Matte,Ursula; Giugliani,Roberto.	
Data: 	2019-01-01	
Ano: 	2019	
Palavras-chave: 	Ion Torrent; Molecular diagnostics; Next-generation sequencing; Lysosomal storage disorders; Validation.	
Resumo: 	Abstract Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in phenotype penetrance, similar clinical manifestations, and a high allelic heterogeneity. A powerful tool for the diagnosis of the disease could reduce the “diagnostic odyssey” for affected families, leading to an appropriate genetic counseling and a better outcome for current therapies, since enzyme replacement therapies have been approved in Brazil for Gaucher, Fabry, and Pompe diseases, and are under development for Niemann-Pick Type B. However, application of next-generation sequencing (NGS) technology in the clinical diagnostic setting requires a previous validation phase. Here, we assessed the application of this technology as a fast, accurate, and cost-effective method to determine genetic diagnosis in selected LSDs. We have designed two panels for testing simultaneously 11 genes known to harbor casual mutations of LSDs. A cohort of 58 patients was used to validate those two panels, and the clinical utility of these gene panels was tested in four novel cases. We report the assessment of a NGS approach as a new tool in the diagnosis of LSDs in our service.	
Tipo: 	Info:eu-repo/semantics/article	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200197	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/1678-4685-gmb-2018-0092	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.42 n.1 suppl.1 2019	
Fonte: 	info:eu-repo/semantics/openAccess