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

Performance Characteristics

Availability

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  • Entire test performed in-house

Analytical Validity

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For validation, samples from patients with Duchenne (DMD) and Becker muscular dystrophy (BMD) with a known genotype and 2 CAP samples were analyzed (79 exons of the DMD gene). 100% concordance was obtained in the results.

Citations

Not provided

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
Yes
Method used for proficiency testingHelp
Formal PT program
PT ProviderHelp
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

FDA Regulatory Clearances of the Test

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Not provided

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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