Mitochondrial DNA analysis
- 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.: GTR000596973.1
- Last updated: 2021-11-28
- Annual Review past due read more
- Test version history
- 596973.1, last updated: 2021-11-28
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 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
Offered by DLE - Diagnosticos Laboratoriais Especializados
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Mitochondrial DNA analysis (MTDNANGS)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Click Indication tab for more information.
Medical request is required. Specimen types: total blood with EDTA. Collection Instructions: do not manipulate the sample - send in the collection tube (with EDTA), refrigerated. Fill out the Genetic Study questionnaire and Consent Term.
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://dle.com.br/
Specimen source
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
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Illumina NovaSeq 6000
- None/not applicable
Establish or confirm diagnosis
- Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China. - PubMed ID: 33013660
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Custom Sequence Analysis
- Custom mutation-specific/Carrier testing
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