What is the tiered diagnostic approach for sudden hearing loss?

Updated: Aug 28, 2019
  • Author: Neeraj N Mathur, MBBS, MS, DNB(ENT), MNAMS, FAMS; Chief Editor: Arlen D Meyers, MD, MBA  more...
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For individuals with physical findings and histories that do not suggest a known syndrome or environmental cause of hearing loss, a tiered diagnostic approach is needed that includes the following [29] :

  • Genetic counseling and, after informed consent, genetic testing
  • Single-gene testing in cases in which a specific etiology is suspected from the history and physical findings
  • In the absence of any specific clinical indications and for apparent autosomal recessive inheritance, testing for DFNB1-related hearing loss (due to mutations in  GJB2 and adjacent deletions in  GJB6)
  • If initial genetic testing is negative, consider genetic testing using gene panel tests and next-generation sequencing (NGS) technologies; however, the clinician must be aware of the genes included in the test (panel) and the performance characteristics of the platform chosen, including coverage, analytic sensitivity, and what types of mutations will be detected
  • Test results should be communicated through genetic counseling regardless of whether they are positive, negative, or inconclusive
  • If genetic testing reveals mutation(s) in a hearing loss–related gene, mutation-specific genetic counseling should be provided, followed by medical evaluations and referral to a multidisciplinary care center, when available
  • Consider temporal bone imaging by CT scanning or MRI, particularly if the diagnosis remains unclear, if cochlear implantation is being considered, if auditory neuropathy is noted, in cases of progressive hearing loss, or if other clinical concerns exist
  • If genetic testing fails to identify an etiology for a patient's hearing loss, the possibility of a genetic or acquired etiology remains and further genetic testing may be pursued in a research setting; periodic follow-up care every 3 years with a geneticist may be appropriate to identify syndromic forms of hearing loss that may appear as individuals age and to discuss new genetic tests that may have become available

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