U.S. flag

An official website of the United States government

GTR Home > Tests > Centronuclear Myopathy: gene sequencing

Overview

Test order codeHelp: N00015

Test name

Help

Centronuclear Myopathy: gene sequencing

Purpose of the test

Help

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

Condition

Help

Loading data ......

Click Indication tab for more information.

How to order

Help

Order URL Help: http://diagnostics.cen4gen.org/diagnostics/order-a-test/

Specimen source

Isolated DNA
Peripheral (whole) blood
Saliva

Methodology

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

Summary of what is tested

Loading data ......

Click Methodology tab for more information.

Clinical utility

Help

Not provided

Clinical validity

Help

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.