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GTR Home > Tests > Neuromuscular Disorders exome


Test order codeHelp: 6112

Test name


Neuromuscular Disorders exome

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Predictive, Prognostic, Recurrence



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Click Indication tab for more information.

How to order


•All samples should be shipped via overnight delivery at room temperature. •No weekend or holiday deliveries. •Label each specimen with the patient’s name, date of birth and date sample collected. •Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed. https://dnatesting.uchicago.edu/tests/neuromuscular-disorders-exome
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Cell culture
Peripheral (whole) blood


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

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility


Establish or confirm diagnosis

  • 1. Laing, N.G., Genetics of neuromuscular disorders. Crit Rev Clin Lab Sci, 2012. 49(2): p. 33-48. 2. Reed, U.C., Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives. Arq Neuropsiquiatr, 2009. 67(2A): p. 343-62. 3. Hicks, D., et al., Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. Hum Mol Genet, 2014. 23(9): p. 2353-63. 4. Brislin, R.P. and M.C. Theroux, Core myopathies and malignant hyperthermia susceptibility: a review. Paediatr Anaesth, 2013. 23(9): p. 834-41. 5. Jungbluth, H., et al., Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord, 2007. 17(4): p. 338-45. 6. Pierson, C.R., et al., X-linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol, 2005. 64(7): p. 555-64. 7. Fardeau, M. and F. Tome, Congenital Myopathies, in Myology, A. Engel and C. Franzini-Armstrong, Editors. 1994, McGraw-Hill

Clinical validity


Not provided

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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