OtoSCOPE® Genetic Hearing Loss Testing

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.

What is in OtoSCOPE® v9?

Why OtoSCOPE® and the MORL?  Simple – get the best.

  • Detailed, case-by-case review
    • Every patient’s clinical history, hearing loss phenotype, and family history are discussed with our multidisciplinary Hearing Group
  • Expertise and experience
  • Commitment to advancing understanding of hearing and deafness
    • Exploration of variants of uncertain significance through our HEAR VUS Program provides familial testing free of charge for qualifying families
    • Innovative research in basic science, bioinformatics, and translational studies advances our understanding of hearing and deafness and improves clinical care
    • Multiple publications highlight our contributions to the field and are widely available to the scientific community and general public

Methodology: 
Next generation sequencing with read depth analysis for CNV detection.

Turnaround time: 
Turnaround time is approximately 6 weeks.

Sample Required:
8 - 10 cc. whole blood in lavender (EDTA) top tubes OR 10 μg DNA, minimum concentration: 50 ng/μl (A260/A280 1.8-2) resuspended in 0.1mM EDTA (10mM Tris HC1, 0.1mM EDTA, pH 8, Teknova Cat#T0220).

Cost & CPT Codes 
See the MORL Testing Menu

GeneTests GeneReviews - Deafness and Hereditary Hearing Loss Overview