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GTR Home > Tests > X-Linked Myotubular Myopathy

Overview

Test name

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X-Linked Myotubular Myopathy

Purpose of the test

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This is a clinical test intended for Help: Screening

Condition

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How to order

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Not provided

Specimen source

Isolated DNA
Peripheral (whole) blood
Saliva

Methodology

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

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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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.

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.