Mitochondrial Non Syndromic Hearing Loss and Deafness
- 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.: GTR000500593.7
- Last updated: 2023-07-28
- Test version history
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 Mitochondrial non-syndromic sensorineural hearing loss
Offered by Molecular Genetics and Cytogenetics, Clinical Laboratory Service
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Mitochondrial Non Syndromic Hearing Loss and Deafness
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
Click Indication tab for more information.
Not provided
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
- TTargeted variant analysis
- Uni-directional Sanger sequencing
Establish or confirm diagnosis
- Mitochondrial DNA analysis in clinical laboratory diagnostics. - PubMed ID: 15748595
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.The Sensorineural hearing loss (SNHL) caused by ototoxicity due to aminoglycosides is mainly due to pathogenic variants in the MT-RNR1 gene of the mtDNA, the A1555G variant is the most frequent. Less frequent variants such as C1494T and A827G in this same gene have also been detected. Although it has been reported that the effect of A827G is controversial, it was detected in a subject with SNHL in our laboratory. On the other hand, in the SNHL of onset in childhood, variants in MT-TS1 gene have been associated (A7443G, A7444G and A7445G) of mtDNA, being changes in 7445 codon the most frequent.
- 1. Genereviews: NBK1422
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
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