GTR Home > Tests > Neuromuscular Disorders Sequencing Panel


Test name


Neuromuscular Disorders Sequencing Panel

Purpose of the test


This is a clinical test intended for Help: Diagnosis



241 conditions tested. Click Indication tab for more information.

How to order


Order URL Help:

Specimen source

Cell culture
Cord blood
Fresh tissue
Isolated DNA
Peripheral (whole) blood


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

Summary of what is tested

144 genes and variants. Click Methodology tab for more information.


Clinical utility


Not provided

Clinical validity


Not provided

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously

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.

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.

Support Center