A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.

Wang, Wenjie; Yang, Jianping; Xue, Jinjie; Mu, Wenjuan; Zhang, Xiaogang; Wu, Wang; Xu, Mengnan; Gong, Yuyan; Liu, Yiqian; Zhang, Yu; Xie, Xiaobing; Gu, Weiyue; Bai, Jigeng; Cram, David S

Wang, Wenjie; Yang, Jianping; Xue, Jinjie; Mu, Wenjuan; Zhang, Xiaogang; Wu, Wang; Xu, Mengnan; Gong, Yuyan; Liu, Yiqian; Zhang, Yu; Xie, Xiaobing; Gu, Weiyue; Bai, Jigeng; Cram, David S.

Afiliação

Wang W; Children and Women's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, Shanxi, China.
Yang J; Children and Women's Hospital of Shanxi, Newborn Disease Screening Center of Shanxi Province, Taiyuan, Shanxi, China.
Xue J; Children and Women's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, Shanxi, China.
Mu W; Children and Women's Hospital of Shanxi, Newborn Disease Screening Center of Shanxi Province, Taiyuan, Shanxi, China.
Zhang X; Children and Women's Hospital of Shanxi, Newborn Disease Screening Center of Shanxi Province, Taiyuan, Shanxi, China.
Wu W; Beijing Berry Genomics Corporation, Building 5, Courtyard 4, Yiliaoyuan Road, ZGC Life Science Park, Beijing, 102206, Changping District, China.
Xu M; Beijing Berry Genomics Corporation, Building 5, Courtyard 4, Yiliaoyuan Road, ZGC Life Science Park, Beijing, 102206, Changping District, China.
Gong Y; Beijing Berry Genomics Corporation, Building 5, Courtyard 4, Yiliaoyuan Road, ZGC Life Science Park, Beijing, 102206, Changping District, China.
Liu Y; Beijing Berry Genomics Corporation, Building 5, Courtyard 4, Yiliaoyuan Road, ZGC Life Science Park, Beijing, 102206, Changping District, China.
Zhang Y; Beijing Berry Genomics Corporation, Building 5, Courtyard 4, Yiliaoyuan Road, ZGC Life Science Park, Beijing, 102206, Changping District, China.
Xie X; Beijing Chigene Translational Medicial Research Center Co., Beijing, 101111, China.
Gu W; Beijing Chigene Translational Medicial Research Center Co., Beijing, 101111, China.
Bai J; Children and Women's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, Shanxi, China.
Cram DS; Children and Women's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, Shanxi, China. david.cram@berrygenomics.com.

BMC Med Genet ; 20(1): 3, 2019 01 06.

Article em En | MEDLINE | ID: mdl-30612563

Assuntos

Sequenciamento do Exoma/métodos; Exoma/genética; Erros Inatos do Metabolismo/diagnóstico; Erros Inatos do Metabolismo/genética; Reação em Cadeia da Polimerase Multiplex/métodos; Triagem Neonatal/métodos; Acil-CoA Desidrogenase/deficiência; Acil-CoA Desidrogenase/genética; Erros Inatos do Metabolismo dos Aminoácidos/genética; Citrulinemia/genética; Aconselhamento Genético; Genótipo; Glutaratos; Glicina N-Metiltransferase/deficiência; Glicina N-Metiltransferase/genética; Heterozigoto; Humanos; Recém-Nascido; Erros Inatos do Metabolismo Lipídico/genética; Masculino; Técnicas de Diagnóstico Molecular/métodos; Mutação; Fenilalanina Hidroxilase/genética; Fenilcetonúrias/diagnóstico; Fenilcetonúrias/genética; Estudos Prospectivos; Estudos Retrospectivos; Espectrometria de Massas em Tandem/métodos

Palavras-chave

Compound heterozygotes; Inborn errors of metabolism (IEM); Newborns; PCR exome amplification and re-sequencing (PEARS); Phenylketonuria (PKU); Tandem mass spectroscopy (MS MS)

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Reação em Cadeia da Polimerase Multiplex / Exoma / Sequenciamento do Exoma / Erros Inatos do Metabolismo Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans / Male / Newborn Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China País de publicação: Reino Unido

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