GTR Home > Tests > Test for GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness

Overview

Conditions for which test is offered: GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness

Testing Method

  • Molecular Genetics
    • Sequence analysis of select exons
    • Deletion/duplication analysis

Test services

  • Carrier testing

Test CommentHelp

  • Sequence analysis of exon 2

Contact Policy Help

Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.

Clinical resources

Practice guidelines

  • NICE, 2009
    National Institute for Health and Clinical Excellence, Cochlear implants for children and adults with severe to profound deafness, 2009
  • ACMG, 2002
    Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss

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