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TMTC2
Clinical Genetic Test
Help
offered by
Molecular Diagnostics
GTR Test Accession: Help GTR000597366.1
Registered in GTR: 2022-02-07
View version history
Last annual review date for the lab: 2024-10-15 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening; ...
Conditions (1): Help
Hearing Loss/Deafness
Genes (1): Help
TMTC2 (12q21.31)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: SNP Detection
Target population: Help
Patients with bilateral, symmetric, progressive sensorineural hearing loss
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostics
Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Licensed Physician
Lab contact: Help
Elizabeth Glaser, Staff
Michele Rifelj, Staff
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.
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:
Test Order Code, How to Order, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
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
SNP Detection
Applied Biosystems QuantStudio 12K Flex
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening; Therapeutic management
Target population: Help
Patients with bilateral, symmetric, progressive sensorineural hearing loss
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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
clinical sensitivity and specificity 100%
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
Not provided
Additional Information
Consumer resources:

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.