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mtRNR1 gene sequencing for hearing loss
Clinical Genetic Test
Help
offered by
Molecular Diagnostics
GTR Test Accession: Help GTR000556807.3
INHERITED DISEASEDYSMORPHOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2021-07-15
View version history
Last annual review date for the lab: 2024-10-15 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (2): Help
Mitochondrial non-syndromic sensorineural hearing loss; Aminoglycoside-induced deafness
Genes (3): Help
MT-ND1 (); MT-RNR1 (); MT-TS1 ()
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Bi-directional Sanger Sequence Analysis
Target population: Help
Individuals exhibiting symptoms consistent with moderate to profound hearing loss. …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostics
Test short name: Help
mtRNR
Specimen Source: Help
  • Peripheral (whole) blood
Test Order Code: Help
mtRNR1
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
Applied Biosystems SeqStudio
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Individuals exhibiting symptoms consistent with moderate to profound hearing loss. Individuals exhibiting symptoms consistent with hearing loss following known aminoglycoside exposure. Individuals with family history of hearing loss suggestive of maternal inheritance. Incidence of the A1555G mutation in the mitochondrial RNR1 gene associated with hearing loss is 70%.
View citations (1)
  • Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Prezant TR, et al. Nat Genet. 1993;4(3):289-94. doi:10.1038/ng0793-289. PMID: 7689389.
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Platform:
None/not applicable
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical specificity and sensitivity are >95%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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