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GJB6 (Connexin-30) copy number variation for hearing loss
Clinical Genetic Test
Help
offered by
Molecular Diagnostics
GTR Test Accession: Help GTR000556806.3
EAR, NOSE, THROATNERVOUS SYSTEMINHERITED DISEASE ... View more
Last updated in GTR: 2021-07-22
View version history
Last annual review date for the lab: 2023-10-25 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (2): Help
Autosomal recessive nonsyndromic hearing loss 1B; Autosomal recessive nonsyndromic hearing loss 1A
Genes (1): Help
GJB6 (13q12.11)
Methods (1): 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
GJB6
Specimen Source: Help
Test Order Code: Help
GJB6
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: 2
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
Deletion/duplication analysis
PCR
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)
  • A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. del Castillo I, et al. N Engl J Med. 2002;346(4):243-9. doi:10.1056/NEJMoa012052. PMID: 11807148.
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
Analytical sensitivity is 100%; 95% confidence intervals are 61-100%. Analytical specificity is 97%; 95% confidence intervals are 83-99%.
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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