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GTR Home > Tests > Duchenne and Becker Muscular Dystrophy

Overview

Test name

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Duchenne and Becker Muscular Dystrophy (DMD_MLPA)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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How to order

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Not provided

Methodology

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Molecular Genetics
SMutation scanning of the entire coding region
Multiplex Ligation-dependent Probe Amplification (MLPA)

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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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
  • 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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