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?
- 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
- 2021 Hearing Test Requisition form
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
- OtoSCOPE® was the first clinically available genetic testing platform for hearing loss. Over 5,000 patient have been tested on OtoSCOPE®
- MORL scientists have over 100 combined years of experience studying hereditary hearing loss
- MORL is recognized world-wide for expertise in addressing complexities of variant interpretation for hearing loss and deafness
- MORL provides on-going support for healthcare providers, including a dedicated hearing loss genetic counselor
- 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