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GTR Home > Tests > Myotubular Myopathy, X-linked

Methodology

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Microarray
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Test comments

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MTM1 sequencing is included in the XLID Next Generation Sequencing panel.

Test development

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Test developed by laboratory (no manufacturer test name)

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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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