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GTR Home > Tests > Duchenne and Becker muscular dystrophy (DMD gene)

Laboratory contact

Laboratory information

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Molecular Genetics and Cytogenetics, Clinical Laboratory Service
RED DE SALUD UC CHRISTUS

Laboratory director(s)

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  • Marcela Lagos, MD, Lab Director

Laboratory contact for this test

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  • Marcela Lagos, MD, Lab Director
  • Phone Number: +56 223548515
  • Email: mlagos@med.puc.cl
  • Fax Number: +56 223548603

Laboratory contact

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  • Clinical Laboratories
  • Avenida Vicuna Mackenna 4686
  • Santiago, Region Metropolitana 6904413
  • Chile

Laboratory services offered

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Identity Testing

Laboratory credentials

Certifications

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  • Nch-ISO 15189-2012, Number: 0102, Expiration: 2013-12-31
  • Estándar de acreditación para Prestadores Institucionales de Ate, Number: 280, Expiration: 2020-03-01

Practice guidelines

  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, ELEVATED CREATINEKINASE(CK)-MM , Genetic Neuromuscular Disorders, 2022
  • ACMG ACT, 2020
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, No Pathogenic Variant in Dystrophin (DMD) Gene after elevated creatine kinase muscle isoform (CK-MM), Genetic Neuromuscular Disease, 2020
  • ACMG ACT, 2020
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated creatine kinase muscle isoform (CKMM), Genetic Neuromuscular Disease, 2020
  • ACMG ACT, 2019
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Pathogenic Variant in Dystrophin (DMD Gene) and elevated creatine kinase muscle isoform (CK-MM), Duchenne and Becker Muscular Dystrophy, 2019
  • ACMG ACT, 2012
    American College of Medical Genetics & Genomics Genetic Testing ACT Sheet, Duchenne and Becker Muscular Dystrophy, 2012

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