Clinical utility and cost-effectiveness analysis of chromosome testing concomitant with chromosomal microarray of patients with constitutional disorders in a U.S. academic medical center.

Su, Meng; Page, Stephanie; Haag, Mary; Swisshelm, Karen; Hennerich, Deborrah; Graw, Sharon; LeRoux, Jamie; Brzeskiewicz, Peter; Svihovec, Shayna; Bao, Liming

Su, Meng; Page, Stephanie; Haag, Mary; Swisshelm, Karen; Hennerich, Deborrah; Graw, Sharon; LeRoux, Jamie; Brzeskiewicz, Peter; Svihovec, Shayna; Bao, Liming.

Afiliação

Su M; Colorado Genetics Laboratory, Department of Pathology, University of Colorado School of Medicine, Aurora, CO, USA.
Page S; Genetics Counseling Program, Department of Genetics, University of Colorado School of Medicine, Aurora, CO, USA.
Haag M; Colorado Genetics Laboratory, Department of Pathology, University of Colorado School of Medicine, Aurora, CO, USA.
Swisshelm K; Colorado Genetics Laboratory, Department of Pathology, University of Colorado School of Medicine, Aurora, CO, USA.
Hennerich D; Colorado Genetics Laboratory, Department of Pathology, University of Colorado School of Medicine, Aurora, CO, USA.
Graw S; Colorado Genetics Laboratory, Department of Pathology, University of Colorado School of Medicine, Aurora, CO, USA.
LeRoux J; Colorado Genetics Laboratory, Department of Pathology, University of Colorado School of Medicine, Aurora, CO, USA.
Brzeskiewicz P; Colorado Genetics Laboratory, Department of Pathology, University of Colorado School of Medicine, Aurora, CO, USA.
Svihovec S; Clinical Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Bao L; Colorado Genetics Laboratory, Department of Pathology, University of Colorado School of Medicine, Aurora, CO, USA.

J Genet Couns ; 31(2): 364-374, 2022 04.

Article em En | MEDLINE | ID: mdl-34397147

Assuntos

Transtorno do Espectro Autista; Deficiência Intelectual; Centros Médicos Acadêmicos; Transtorno do Espectro Autista/diagnóstico; Transtorno do Espectro Autista/genética; Criança; Aberrações Cromossômicas; Cromossomos; Análise Custo-Benefício; Variações do Número de Cópias de DNA; Deficiências do Desenvolvimento/genética; Humanos; Deficiência Intelectual/genética; Análise em Microsséries; Estudos Retrospectivos

Palavras-chave

autism spectrum disorder; chromosomal microarray; chromosome analysis; clinical utility; cost-effectiveness; developmental delay; intellectual disability; multiple congenital anomalies

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtorno do Espectro Autista / Deficiência Intelectual Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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