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GTR Home > Tests > X-Linked Centronuclear Myopathy

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

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  • M√ľnchen, 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

Suggested reading

  • Frase, 2016
    Dream On: The Pursuit to Cure Myotubular Myopathy Born out of a Mother's Vision

Practice guidelines

  • EuroGenetest, 2012
    Clinical utility gene card for: Centronuclear and myotubular myopathies.

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.