GTR Home > Tests > OtoSCOPE


Test order codeHelp: OtoSCOPE

Test name



Purpose of the test


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



181 conditions tested. Click Indication tab for more information.


Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina HiSeq 4000 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.


Chromosomal regions/Mitochondria

  • 21:16,400,000 - 31,500,000

Clinical validity


Not provided

Clinical utility


Not provided

How to order

Order URL Help:

Test services

  • 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

  • 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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