GJB2/GJB6
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000562143.4
- Last updated: 2023-01-13
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Autosomal recessive nonsyndromic hearing loss 1A
Offered by Molecular Otolaryngology and Renal Research Laboratories
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.GJB2/GJB6
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
Click Indication tab for more information.
8-10 cc of whole blood in lavender top EDTA tubes or 10 μg DNA from whole blood (minimum concentration: 50 ng/μl), samples can be received Monday - Friday (no weekend or holiday deliveries), completed testing requisition form MUST accompany all samples - Institutional Billing or payment by Visa/Mastercard only.
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://morl.lab.uiowa.edu/clinical-diagnostics/testing-menu
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- DDeletion/duplication analysis
- Multiplex PCR using deletion-specific primers followed by gel electrophoresis
- CSequence analysis of the entire coding region
- Bi-directional Sanger Sequence Analysis
- Applied Biosystems 3730 capillary sequencing instrument
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
Testing strategy
HelpThe lab's suggested sequence of ordering tests based on clinical scenarios. It may include information on: reflex testing including each test component, and scenarios which prompt additional components of testing; whether lab communicates interim results or automatically proceeds to further analyses; and if any components are performed in another laboratory.GJB2 variant screening is performed by amplification of oligonucleotide primers that flank each exon followed by bi-directional sequencing. Screening for the del(GJB6-D13S1830) and del(GJB6-D13S1854) variants is completed by PCR amplification of oligonucleotide primers flanking and within the deletion breakpoints. Products are run on agarose gel and sized to determine presence or absence of a deletion.) 000 8-10 cc of whole blood in lavender top EDTA tubes or 10 μg DNA from whole blood (minimum concentration: 50 ng/μl), samples can be received Monday - Friday (no weekend or holiday deliveries), completed testing requisition form MUST accompany all samples - Institutional Billing or payment by Visa/Mastercard only.
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
- Custom mutation-specific/Carrier testing
- NICE, 2019Cochlear implants for children and adults with severe to profound deafness (2019 Update)
- NICE, 2009National Institute for Health and Clinical Excellence, Cochlear implants for children and adults with severe to profound deafness, 2009 [See 2019 Update, TA566]
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