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GTR Home > Tests > Muscular Dystrophy: Limb Girdle - autosomal dominant

Laboratory contact

Laboratory information

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MGZ Medical Genetics Center

Laboratory director(s)

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  • Angela Abicht, MD, Lab Director
  • Elke Holinski-Feder, MD, Lab Director
  • Teresa Neuhann, MD, Lab Director

Laboratory contact for this test

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  • Angela Abicht, MD, Lab Director
  • Phone Number: +49 8930908860
  • Email: info@mgz-muenchen.de
  • Fax Number: +49 89309088666

Laboratory contact

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  • München, Bayern 80335
  • Germany

Laboratory services offered

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Genetic counseling
  • Identity Testing
  • Liquid Biopsy (NSCLC, colon cancer, melanoma)
  • Mutation Confirmation
  • Non-invasive prenatale testing (NIPT)
  • Preimplantation Genetic Diagnosis (PGD)
  • Result interpretation
  • Uniparental Disomy (UPD) Testing
  • X-Chromosome Inactivation Studies

Laboratory participation in external programs

ISCA Consortium (International Standards for Cytogenomic Arrays)

Laboratory credentials

Certifications

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  • DAkkS, Number: D-ML-13242-01-00, Expiration: 2027-08-13

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
  • Orphanet, 2013
    Orphanet, Duchenne muscular dystrophy, 2013
  • ACMG ACT, 2012
    American College of Medical Genetics & Genomics Genetic Testing ACT Sheet, Duchenne and Becker Muscular Dystrophy, 2012

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