Myotubular myopathy, X-linked, 310400, X-linked recessive; CNMX (X-linked centronuclear myopathy) (MLPA)
- 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.: GTR000578331.1
- Last updated: 2022-05-14
- Annual Review past due read more
- Test version history
- 578331.1, last updated: 2022-05-14
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 Intergen
Methodology
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)
Test development
HelpHow the test was developed (e.g. Laboratory Developed Test (LDT), FDA reviewed, externally manufactured kit, modified FDA-reviewed test, or combination). Intended to help differentiate certification requirements between the test types. Reflex testing not included here.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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