DFNB31 single gene sequencing
- 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.: GTR000552989.2
- Last updated: 2023-01-20
- 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 Hereditary hearing loss and deafness
Offered by Molecular Vision Laboratory
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.DFNB31 single gene sequencing
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
Click Indication tab for more information.
Blood: (1) 3-5ml in EDTA (lavender top tube); for patients under 1 year of age, we accept 1-2ml (minimum). Blood is our preferred specimen type to receive for testing. Blood Specimens should be received within 72 hours of collection if possible – maximum five days. Store specimen at ambient room temperature or refrigerate until you send; do not freeze. Extracted DNA: 10ug DNA. DNA specimens can be sent at ambient temperature and express delivery should be arranged such that it arrives within 72 to 5 days from collection. Saliva or prenatal specimens: Contact the lab directly at 503-227-3179 or inquiry@mvisionlab.com to confirm whether sample is suitable for the test you wish to order. MVL can mail collection kits and return packaging and labels. Kits are priced ‘at cost’ at $25 per kit plus domestic shipping costs. Email requests to inquiry@mvisionlab.com to receive a quote. Saliva can be sent at ambient temperature and express delivery should be arranged such that it arrives within 72 to 5 days from collection.
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://www.molecularvisionlab.com/order-a-test/
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
- ESequence analysis of select exons
- Bi-directional Sanger Sequence Analysis
- CSequence analysis of the entire coding region
- Bi-directional Sanger Sequence AnalysisNext-Generation (NGS)/Massively parallel sequencing (MPS)
- TTargeted variant analysis
- Bi-directional Sanger Sequence Analysis
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
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)
- ACMG ACT Sheet, 2018Newborn Screening ACT Sheet (Congenital Hearing Loss >30db)
- ACMG ACT Sheet, 2010American College of Medical Genetics ACT SHEET, Congenital Hearing Loss, 2010
- ACMG Algorithm, 2009American College of Medical Genetics Algorithm, Hearing Loss, 2009
- NICE, 2009National Institute for Health and Clinical Excellence, Cochlear implants for children and adults with severe to profound deafness, 2009 [See 2019 Update, TA566]
- ACMG Algorithm, 2009American College of Medical Genetics ACT SHEET, Newborn Screening ACT Sheet Algorithm, Congenital Hearing Loss, 2009
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