Hereditary Hearing loss
Elevate outcomes through clinically relevant genetic analysis
A team of hearing loss experts, genetic counselors, and laboratorians developed our comprehensive genetic hearing loss panel with disease management in mind. By only including genes with clear associations to hearing loss, our test provides accurate answers to optimize patient outcomes. Our test uses a custom capture, next-generation sequencing reagent to provide maximum sequencing coverage with the goal of identifying single nucleotide variants, small insertions and deletions, and copy number variants. For genes with suboptimal coverage, we perform supplemental testing.
Hereditary Hearing loss Test menu
Hereditary Hearing loss
Our goal is to provide clear diagnostics that pave the way for targeted treatments to effectively manage hearing loss. With an early diagnosis, it may be possible to avoid unnecessary workups and appointments, and reduce anxiety for patients, their families, and their providers.
Key testing
Advantages
- Confirms a genetic cause of hearing loss to clarify whether the loss is nonsyndromic or syndromic, in which case other organ systems may be involved and disease-specific management necessary.
- Identifies variants within genes known to be associated with hereditary hearing loss, allowing for predictive testing of at-risk family members.
- Uses droplet digital polymerase chain reaction (ddPCR) for mitochondrial variants, allowing for detection of heteroplasmy.
Highlights
Identifying a precise genetic cause of hearing loss impacts clinical management. Nicole Boczek, Ph.D., and Melanie Meyer, M.S., CGC, explain how Mayo Clinic Laboratories' updated panel yields comprehensive results for optimal patient care.