MYOTUBULAR / CENTRONUCLEAR MYOPATHY (X-LINKED)
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000557726.1
- Last updated: 2023-09-11
- Test version history
- 557726.1, last updated: 2023-09-11
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Severe X-linked myotubular myopathy
Offered by Laboratorio de Genetica Clinica SL
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.MYOTUBULAR / CENTRONUCLEAR MYOPATHY (X-LINKED)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Pre-symptomatic
Click Indication tab for more information.
Not provided
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- DDeletion/duplication analysis
- Multiplex Ligation-dependent Probe Amplification (MLPA)
- CSequence analysis of the entire coding region
- Bi-directional Sanger Sequence Analysis
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
- Frase, 2016Dream On: The Pursuit to Cure Myotubular Myopathy Born out of a Mother's Vision
- EuroGenetest, 2012Clinical utility gene card for: Centronuclear and myotubular myopathies.
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