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OtoSCOPE® - Genetic Testing for Hearing Loss

last modified on: Mon, 04/01/2024 - 09:36

See contemporary (2024) information re: OtoSCOPE ® Genetic Hearing Loss Testing at the University of Iowa

What is OtoSCOPE®?

  • OtoSCOPE is a genetic testing platform that utilizes custom-targeted sequence capture for DNA enrichment followed by massively parallel DNA sequencing to test for genetic variations in the known hearing loss genes provided by the Molecular Otolarynglogy and Renal Research Laboratory (MORL) at the University of Iowa. All genes known to cause Non-syndromic sensorineural hearing loss, Usher syndrome and Pendred syndrome are examined with one testing run. Data analysis to examine possible causative variants using our custom variant pipeline is followed by confirmation of all possible variants by traditional Sanger sequencing.
  • OtoSCOPE® is available on both a clinical and a limited research protocol. There is no charge for research testing. To qualify for research testing, certain requirements must be met (see below).

How do I know if my patient qualifies for OtoSCOPE research?

  • OtoSCOPE is designed for patients with nonsyndromic deafness or syndromic deafness caused by Pendred or Usher syndromes. MORL does NOT recommend OtoSCOPE (either research or clinically) for genetic testing in persons suspected of having syndromic deafness due to other causes.
  • The MORL Hearing Group meets each Thursday to consider recent submissions. The MORL will consider your patient for research testing if they meet guidelines set forth in (1a) and you provide the following additional information (1, 2 and 3 are REQUIRED):
    1. Pedigree
    2. Audiograms
    3. Clinic notes pertaining to your patient’s hearing loss
    4. Temporal bone CT and/or MR imaging on disc if these studies have been done.

The MORL has determined that my patient qualifies for OtoSCOPE. What do I do now?

  • Please ask your patient/patient’s family to contact the laboratory to express their interest in
    participating in our research. They will be provided a consent form, which must be completed.
    They may contact:
    1. Amy Weaver, Project Assistant by e-mail at or by telephone at 319-335-6623
    2. Dr. Richard Smith, Director, MORL by e-mail.
      (Note: Within UIHC please see attachment for other persons within Otolaryngology who may obtain consent from your patient.)
  • Please provide the following:
    1. Submit 2-3 full lavender-top EDTA tubes (must be > 10 cc total volume) of whole blood OR 10 μg DNA from whole blood (minimum concentration: 50 ng/μl)
      *Please note the MORL cannot run OtoSCOPE if these DNA requirements are not met.
    2. Completed Hearing Loss Research requisition form.

My patient does NOT qualify for the research study, but I still wish to take advantage of these services.

  • Please contact Amy Weaver (as noted above) to initiate these services.
    1. Within UIHC please order OtoSCOPE through EPIC as a miscellaneous test. Please note that for UIHC patients, ALL clinical samples must come to the MORL through Pathology.
    2. Outside UIHC please follow your institution’s guidelines for sending out genetic testing samples.

How much does OtoSCOPE cost and how do I order OtoSCOPE?

  • Please contact Amy Weaver regarding current costs and turn around time for results.

What do I do next?

  • Please provide the following:
    1. Submit 2-3 full lavender-top EDTA tubes (must be > 10 cc total volume) of whole blood OR 10 μg DNA from whole blood (minimum concentration: 50 ng/μl)
    2. Completed Hearing Loss/OtoSCOPE Testing requisition form.