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GTR Home > Tests > Muscle Disease with Contractures and/or Rigid Spine

Overview

Test order codeHelp: 43.01

Test name

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Muscle Disease with Contractures and/or Rigid Spine

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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Click Indication tab for more information.

How to order

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Not provided

Specimen source

Peripheral (whole) blood

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Not provided

Clinical validity

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Not provided

Practice guidelines

  • CDC DMD Care Considerations Working Group, 2018
    Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management
  • CDC DMD Care Considerations Working Group, 2018
    Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management
  • CDC DMD Care Considerations Working Group, 2018
    Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan
  • AAN, 2022
    Reaffirmed, 2022: Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology
  • 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. (See 2018 Update)
  • CDC DMD Care Considerations Working Group, 2010
    Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. (See 2018 Update)
  • 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.
  • Updated, AAN/CNS, 2005
    Updated, 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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