GTR Home > Tests > OtoSCOPE

Overview

Test order codeHelp: OtoSCOPE

Test name

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OtoSCOPE

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Prognostic

Condition

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180 conditions tested. Click Indication tab for more information.

How to order

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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 Help: https://morl.lab.uiowa.edu/clinical-diagnostics/deafness

Specimen source

Cell-free DNA
Isolated DNA
Peripheral (whole) blood

Methodology

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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

Summary of what is tested

152 genes and variants, 2 chromosomal regions. Click Methodology tab for more information.

Genes

Chromosomal regions/Mitochondria

  • 21:16,400,000 - 31,500,000
  • 21:16,400,000 - 31,500,000

Clinical utility

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Not provided

Clinical validity

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Not provided

Testing strategy

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OtoSCOPE® uses custom-targeted sequence capture for DNA enrichment followed by massively parallel DNA sequencing. In this way, all genes known to cause NSHL, Usher syndrome, Pendred syndrome and other syndromes 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

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Result interpretation
  • Custom mutation-specific/Carrier testing

Clinical resources

Practice guidelines

  • NICE, 2019
    Cochlear implants for children and adults with severe to profound deafness (2019 Update)
  • ACMG, 2014
    American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.
  • ACMG ACT Sheet, 2010
    American College of Medical Genetics ACT SHEET, Congenital Hearing Loss, 2010
  • ACMG Algorithm, 2009
    American College of Medical Genetics Algorithm, Hearing Loss, 2009
  • NICE, 2009
    National Institute for Health and Clinical Excellence, Cochlear implants for children and adults with severe to profound deafness, 2009
  • USPSTF, 2008
    Universal screening for hearing loss in newborns: US Preventive Services Task Force recommendation statement.
  • ACMG, 2002
    Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss

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.

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