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GTR Home > Tests > Myotubular Myopathy, X-linked

Overview

Test order codeHelp: Myotubular Myopathy, X-linked

Test name

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Myotubular Myopathy, X-linked

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

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How to order

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Order URL Help: http://www.ggc.org/diagnostic/tests-costs/test-finder/test-finder.html?id=473

Specimen source

Amniocytes
Amniotic fluid
Cell culture
Chorionic villi
Cord blood
Fibroblasts
Fresh tissue
Isolated DNA
Peripheral (whole) blood
Saliva
Skin

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

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

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

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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