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

Performance Characteristics

Availability

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  • Entire test performed in-house

Analytical Validity

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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.

Citations

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Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
No

FDA Regulatory Clearances of the Test

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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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