GTR Home > Tests > OtoGenome Test for Hearing Loss (110 Genes)

Overview

Test order codeHelp: lmOto-pnlBv3_L

Test name

Help

OtoGenome Test for Hearing Loss (110 Genes) (OtoGenome)

Purpose of the test

Help

This is a clinical test intended for Help: Diagnosis

Condition

Help

23 conditions tested. Click Indication tab for more information.

Methodology

Help
Molecular Genetics
DDeletion/duplication analysis
VisCap analysis
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina HiSeq
TTargeted variant analysis
PCR

Summary of what is tested

109 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

Help

Not provided

Clinical utility

Help

Not provided

Testing strategy

Help

The OtoGenomeā„¢ Test is best suited for individuals who have a diagnosed hearing loss for which an underlying etiology has not yet been identified. For an individual with apparently non-syndromic hearing loss, this panel covers both non-syndromic causes of hearing loss as well as those which can present as non-syndromic. Onset of features associated with a syndromic type of hearing loss can be delayed or variable. Given the genetic heterogeneity of hearing loss, the OtoGenomeā„¢ Test allows for a shortened diagnostic course by analyzing 110 genes in a single test. A number of subpanels are available for individuals with a diagnosis or clinical suspicion of a specific hearing loss phenotype or syndromic condition, such as auditory neuropathy spectrum disorders, Usher syndrome, Pendred syndrome or hearing loss with EVA, Branchio-oto-renal syndrome, Waardenburg syndrome, or Wolfram syndrome.

How to order

Help

Physician must complete test requisition and submit a blood sample (see sample requirements)
Order URL Help: http://personalizedmedicine.partners.org/Laboratory-For-Molecular-Medicine/Ordering/Hearing-Loss/OtoGenome-Test.aspx

Test services

Help
  • Clinical Testing/Confirmation of Mutations Identified Previously

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.

Support Center