GTR Home > Tests > Duchenne Muscular Dystrophy

Overview

Test order codeHelp: DMD

Test name

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Duchenne Muscular Dystrophy (DYSTROPHIN)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

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3 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
  • Life Technilogies 3500X sequencer

Summary of what is tested

1 gene and variant. Click Methodology tab for more information.

Genes

  • Gene: DMD (Xp21.2-21.1)

Clinical validity

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Deletions (60-70%) or duplications (>10%) of one or more exons in dystrophin account for the majority of mutations in individuals with DMD and BMD. Sequencing detects 100% of base substitutions or small insertions and deletions.

Citations
  • MIM#310200; MIM#300376

Clinical utility

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Establish or confirm diagnosis

Citations
  • MIM#310200; MIM#300376

How to order

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Whole blood: 2 mL in EDTA tube shipped at ambient temperature
Order URL Help: https://www.hopkinsallchildrens.org/services/pathology-laboratory-medicine/clinical-molecular-genetics-lab-information

Test services

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  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Practice guidelines

  • Orphanet, 2013
    Orphanet, Duchenne muscular dystrophy, 2013
  • CDC Respiratory Panel, 2010
    The respiratory management of patients with duchenne muscular dystrophy: a DMD care considerations working group specialty article.
  • CDC DMD Care Considerations Working Group, 2010
    Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care.
  • CDC DMD Care Considerations Working Group, 2010
    Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management.
  • DMD Management and Anesthesia - ACCP, 2007
    American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation.
  • AAP, 2005
    Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy.
  • AAN/CNS, 2005
    Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

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