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GTR Home > Tests > Myotubular myopathy, X-linked, 310400, X-linked recessive; CNMX (X-linked centronuclear myopathy) (MLPA)

Performance Characteristics



  • Entire test performed in-house

Analytical Validity


MLPA has greater than 99% sensitive for detecting deletion and duplication variants in case of more than one prob is in the affected area. Sensitivity reduces to 95% for the CNV's detected just one prob. Copy number changes detected by only a single probe always require validation by another method.


Not provided

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help

FDA Regulatory Clearances of the Test


Not provided

Suggested reading

  • Frase, 2016
    Dream On: The Pursuit to Cure Myotubular Myopathy Born out of a Mother's Vision

Practice guidelines

  • EuroGenetest, 2012
    Clinical utility gene card for: Centronuclear and myotubular myopathies.

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