Retrospective file review shows limited genetic services fails most patients - an argument for the implementation of exome sequencing as a first-tier test in resource-constraint settings.

Wiener, Emma K; Buchanan, James; Krause, Amanda; Lombard, Zané

Wiener, Emma K; Buchanan, James; Krause, Amanda; Lombard, Zané.

Afiliação

Wiener EK; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Buchanan J; Health Economics Research Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Krause A; NIHR Oxford Biomedical Research Centre, Oxford, UK.
Lombard Z; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

Orphanet J Rare Dis ; 18(1): 81, 2023 04 12.

Article em En | MEDLINE | ID: mdl-37046271

Assuntos

Testes Genéticos; Deficiência Intelectual; Humanos; Sequenciamento do Exoma; Estudos Retrospectivos; Deficiência Intelectual/diagnóstico; Deficiência Intelectual/genética

Palavras-chave

Developmental disorders; Diagnostic guidelines; Exome sequencing; Genetic services; Low- and middle-income countries

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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