Usher Panel
- 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.: GTR000569741.3
- 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 Usher syndrome
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.Usher Panel
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Prognostic
Click Indication tab for more information.
Fill out the MORL Hearing Loss Test Requisition Form completely;
Provide a pedigree, audiograms, clinic notes regarding hearing loss and temporal bone imaging studies (if performed);
Draw 8-10 cc EDTA whole blood OR provide 10 μg DNA, minimum concentration: 50 ng/μl (A260/A280 1.8-2) resuspended in 0.1mM EDTA (10mM Tris HC1, 0.1mM EDTA, pH 8, Teknova Cat#T0220).;
Ship whole blood at room temperature overnight Monday - Thursday to MORL;
Samples can be received Monday - Friday - do NOT ship on weekends;
The MORL will NOT submit to insurance, we can accept institutional billing or payment from the family by Visa or Mastercard.
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/deafness
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
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Illumina NextSeq system
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Agilent SureSelect
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.The Usher Panel uses custom-targeted sequence capture for DNA enrichment followed by massively parallel DNA sequencing. In this way, all genes known to cause Usher syndrome are sequenced at the same time. Data analysis to examine possible causative variants using our custom variant pipeline is followed by confirmation of possible variants by traditional Sanger sequencing. Data analysis is performed and results are discussed at a multidisciplinary meeting where each patient's variants are discussed individually and in the context of their unique clinical information to provide the most comprehensive diagnosis possible. These meetings are attended by clinical experts, research scientists, bioinformaticians and genetic counselors. 000 Fill out the MORL Hearing Loss Test Requisition Form completely; Provide a pedigree, audiograms, clinic notes regarding hearing loss and temporal bone imaging studies (if performed); Draw 8-10 cc EDTA whole blood OR provide 10 μg DNA, minimum concentration: 50 ng/μl (A260/A280 1.8-2) resuspended in 0.1mM EDTA (10mM Tris HC1, 0.1mM EDTA, pH 8, Teknova Cat#T0220).; Ship whole blood at room temperature overnight Monday - Thursday to MORL; Samples can be received Monday - Friday - do NOT ship on weekends; The MORL will NOT submit to insurance, we can accept institutional billing or payment from the family by Visa or Mastercard.
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 Deletion/Duplication Testing
- Custom Sequence Analysis
- Result interpretation
- Custom mutation-specific/Carrier testing
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.