GTR Test Accession:
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GTR000073172.3
Last updated in GTR:
2023-02-08
View version history
GTR000073172.3,
last updated:
2023-02-08
GTR000073172.2,
last updated:
2016-02-17
GTR000073172.1,
registered in GTR:
2015-03-03
At a Glance
Test purpose:
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Mutation Confirmation;
Diagnosis
Conditions (1):
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Autosomal recessive nonsyndromic hearing loss 1A
Genes (2):
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GJB2 (13q12.11);
GJB6 (13q12.11)
Methods (3):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); PCR; ...
Target population: Help
Diagnosis of DFNB1 depends on molecular genetic testing to identify …
Clinical validity:
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Diagnosis of DFNB1 depends on molecular genetic testing to identify …
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Specimen Source:
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- Isolated DNA
- Peripheral (whole) blood
- Cell culture
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Licensed Physician
Test Order Code:
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Non Syndromic Recessive Deafness
Lab contact:
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Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order:
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Please complete the requisition found on the website and ensure it is signed by the referring physician
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Confirmation of research findings
Custom Deletion/Duplication Testing
Test additional service:
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Custom mutation-specific/Carrier testing
Custom Prenatal Testing
Custom Prenatal Testing
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Decline to answer
Test strategy:
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Full sequence analysis of GJB2(Cx26) and GJB6(Cx30) complemented by deletion/duplication analysis of GJB6(Cx30) and GJB2(Cx26).
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 2
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 3
Method Category
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Test method
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Instrument
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq/NextSeq
Deletion/duplication analysis
PCR
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq/NextSeq
Clinical Information
Test purpose:
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Mutation Confirmation;
Diagnosis
Clinical validity:
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Diagnosis of DFNB1 depends on molecular genetic testing to identify deafness-causing mutations in GJB2 and/or GJB6 that alter the gap junction beta-2 protein (connexin 26) and the gap junction beta-6 protein (connexin 30), respectively. Clinically available molecular genetic testing of GJB2 and GJB6 detects more than 99% of deafness-causing mutations …
View more
View citations (2)
- Smith RJH, Azaiez H, Booth K. -Related Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 Jul 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301449.
- https://www.ncbi.nlm.nih.gov/books/NBK1272
Clinical utility:
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Target population:
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Diagnosis of DFNB1 depends on molecular genetic testing to identify deafness-causing mutations in GJB2 and/or GJB6 that alter the gap junction beta-2 protein (connexin 26) and the gap junction beta-6 protein (connexin 30), respectively. Clinically available molecular genetic testing of GJB2 and GJB6 detects more than 99% of deafness-causing mutations …
View more
View citations (1)
- Smith RJH, Azaiez H, Booth K. -Related Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 Jul 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301449.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Novel variations are interrogated using a series of tools. Literature reviews and a search of relevant databases and dbSNP is pursued. This is followed by evaluation using web based insilco analysis including, but not restricted to SIFT, Polyphen2, AlignGVGD, SNPs&GO and ASSEDA(splice). If the pathogenicity is still indeterminate (ACMG group … View more
Novel variations are interrogated using a series of tools. Literature reviews and a search of relevant databases and dbSNP is pursued. This is followed by evaluation using web based insilco analysis including, but not restricted to SIFT, Polyphen2, AlignGVGD, SNPs&GO and ASSEDA(splice). If the pathogenicity is still indeterminate (ACMG group … View more
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided.
Not provided.
Recommended fields not provided:
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 Procedure:
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Mutations identified are repeated in an independent assay
Test Confirmation:
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Mutations identified are repeated in an independent assay
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Sensitivity of this methodology is predicted to be >99%
View citations (1)
- Schenkel LC, Kerkhof J, Stuart A, Reilly J, Eng B, Woodside C, Levstik A, Howlett CJ, Rupar AC, Knoll JHM, Ainsworth P, Waye JS, Sadikovic B. Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis. J Mol Diagn. 2016;18(5):657-667. doi:10.1016/j.jmoldx.2016.04.002. Epub 2016 Jul 02. PMID: 27376475.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
VUS:
Software used to interpret novel variations
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ALAMUT, integrating other programs (Polyphen-2, Mutation Taster, Alignment, ExPASy, BLAST)
Laboratory's policy on reporting novel variations Help
All variants interpreted as either ACMG category 1, 2, or 3 (pathogenic, likely pathogenic, VUS; PMID: 25741868) are confirmed using Sanger sequencing, MLPA, or other assays. ACMG category 4 and 5 variants (likely benign, benign) are not reported, but are available upon request.
ALAMUT, integrating other programs (Polyphen-2, Mutation Taster, Alignment, ExPASy, BLAST)
Laboratory's policy on reporting novel variations Help
All variants interpreted as either ACMG category 1, 2, or 3 (pathogenic, likely pathogenic, VUS; PMID: 25741868) are confirmed using Sanger sequencing, MLPA, or other assays. ACMG category 4 and 5 variants (likely benign, benign) are not reported, but are available upon request.
Recommended fields not provided:
Assay limitations,
Description of internal test validation method,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Practice guidelines:
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.