The BEST comprehensive test for genetic forms of hearing loss including non-syndromic hearing loss, non-syndromic mimics (such as Usher Syndrome, Deafness-Infertility Syndrome, Perrault Syndrome and Pendred syndrome, among others) and common forms of syndromic hearing loss.  In the Molecular Otolaryngology & Renal Research Laboratories (MORL), we continue to refine our diagnostic menu to provide the best testing options for your patients with hearing loss.

• Non-syndromic hearing loss (including 16 new genes)
• Common syndromes with hearing loss (including Pendred, Waardenburg, Stickler syndromes)
• Less common syndromes (CHARGE, Perrault, Brown-Vialetto-Van Laere syndromes)
• Syndromes affecting hearing and vision (Usher syndrome, CEP78, TMEM126A)
• Full list of OtoSCOPEv9 genes and conditions

Hearing loss is the most common sensory deficit in humans. In many persons, it develops as a result of genetic factors that damage the inner ear. For example, in babies, most hearing loss is due to genetic causes, and in many adults, genetic factors can be identified as well. When genetic hearing loss is not associated with other health symptoms, it is called non-syndromic hearing loss (NSHL).

There are also over 400 syndromic causes of hearing loss (hearing loss associated with other features), two of the most common being Usher syndrome (deafness and blindness) and Pendred syndrome (deafness and thyroid abnormalities).

More than 200 genes are known to cause non-syndromic hearing loss, Usher syndrome, Pendred syndrome, and other rare hearing loss syndromes, making genetic diagnosis difficult using conventional methods. It is for this reason that the Molecular Otolaryngology and Renal Research Laboratories (MORL) at the University of Iowa have developed OtoSCOPE®.

The OtoSCOPE® platform relies on modern DNA sequencing methods. It does not target one gene at a time for genetic screening, which can be expensive and time consuming.

OtoSCOPE® simultaneously screens all genes known to cause NSHL, Usher syndrome and other syndromes such as Pendred and Waardenburg syncrome. This comprehensive approach decreases cost and waiting time for test results.

OtoSCOPE® uses custom-targeted sequence capture for DNA enrichment followed by massively parallel DNA sequencing. In this way, all genes on the panel are sequenced at the same time. Data analysis to examine possible causative variants uses our custom variant pipeline, followed by discussion at a multidisciplinary meeting where each patient's variants are considered individually and in the context of their unique clinical information to provide the most comprehensive diagnosis possible.  These meetings are attended by clinical experts, research scientists, bioinformaticians and genetic counselors.

OtoSCOPE® has a diagnostic sensitivity and specificity of greater than 99% (Shearer et al., Proc Natl Acad Sci USA, 107(49), 2010).

Our lab will work directly with your physician or genetic counselor to ensure that test results are interpreted appropriately.

Genetic testing for hearing loss can provide important answers to many questions. By determining the cause of hearing loss, information can be given on recurrence risk for future children, prognosis (whether hearing loss will worsen over time), additional medical evaluation or imaging that should be conducted, and best method of treatment (such as cochlear implants or hearing aids).