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Hearing Loss Panel
Clinical Genetic Test
Help
offered by
Molecular Diagnostics
GTR Test Accession: Help GTR000556802.5
INHERITED DISEASEEAR, NOSE, THROATPSYCHIATRIC ... View more
Last updated in GTR: 2022-02-07
View version history
Last annual review date for the lab: 2023-10-25 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (9): Help
Pendred syndrome; Aminoglycoside-induced deafness; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; ...
Genes (5): Help
GJB2 (13q12.11), GJB6 (13q12.11), MT-RNR1 (), SLC26A4 (7q22.3), TMTC2 (12q21.31)
Methods (4): Help
Molecular Genetics - Deletion/duplication analysis: PCR; ...
Target population: Help
Individuals exhibiting symptoms consistent with nonsyndromic hearing loss and deafness. …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostics
Test short name: Help
HLDS
Specimen Source: Help
Test Order Code: Help
HEARLS
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, Contact policy, Test strategy
Conditions Help
Total conditions: 9
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 5
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 4
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
PCR
Applied Biosystems QuantStudio 12K Flex
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Other
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
Applied Biosystems SeqStudio
Targeted variant analysis
PCR with allele specific hybridization
Applied Biosystems QuantStudio 12K Flex
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Individuals exhibiting symptoms consistent with nonsyndromic hearing loss and deafness. Nonsyndromic hearing loss and deafness (DFNB1) is characterized by congenital non-progressive mild-to-profound sensorineural hearing impairment.
View citations (1)
  • Ito T, Choi BY, King KA, Zalewski CK, Muskett J, Chattaraj P, Shawker T, Reynolds JC, Butman JA, Brewer CC, Wangemann P, Alper SL, Griffith AJ. SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. Cell Physiol Biochem. 2011;28(3):545-52. doi:10.1159/000335119. Epub 2011 Nov 18. PMID: 22116369.
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
Interpretation performed both in-house and at an outside lab
Report generated both in-house and at an outside lab
Specimen preparation performed both in-house and at an outside lab
Wet lab work performed both in-house and at an outside lab

Test performance comments
GJB2 performed at AGEN-SQ lab in the Medical College of Wisconsin
Analytical Validity: Help
For GJB6, analytical sensitivity is 100%; 95% confidence intervals are 61-100%. Analytical specificity is 97%; 95% confidence intervals are 83-99%. For SLC26A and mt-RNR1, analytical specificity and sensitivity are >95%. For GJB2, DNA sequencing detects 99% of nucleotide base alterations, small deletions and small insertions.
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

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.