| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders
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| 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
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| Data: |
2019-01-01
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| Ano: |
2019
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| Palavras-chave: |
Ion Torrent
Molecular diagnostics
Next-generation sequencing
Lysosomal storage disorders
Validation
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| 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.
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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200197
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/1678-4685-gmb-2018-0092
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.42 n.1 suppl.1 2019
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| Direitos: |
info:eu-repo/semantics/openAccess
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