Clinically relevant genetic analysis
Accurate answers elevate outcomes
For cases of suspected hereditary hearing loss, which encompass a heterogenous group of syndromic and nonsyndromic conditions, comprehensive genetic testing can determine molecular etiology. Confirmation of the genetic cause clarifies whether the loss is nonsyndromic or syndromic, in which case other organ systems might be involved. This testing also can establish a long-term prognosis as well as ascertain inheritance pattern and recurrence risk within a family.
A multidisciplinary approach to diagnosis
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 tests provide 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, as well as copy number variants. For genes with suboptimal coverage, we perform supplemental testing. Additionally, we harness the unique capabilities of ddPCR for our mitochondrial variants, allowing for accurate detection of heteroplasmy — a feature that is uncommon in tests available on the market today.
Clinically actionable answers
Our comprehensive panel analyzes 200 genes related to hereditary hearing loss to assess for nonsyndromic hearing and syndromic hearing loss, which can be difficult to recognize clinically. Diagnosis of syndromic hearing loss is critical, as it can often lead to disease-specific management.
Designed by genetic hearing loss experts
Our test was designed by hereditary hearing loss experts, with clinical practice and management in mind. 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 can reduce anxiety for patients, their families, and their providers.
Hereditary hearing loss [Test in Focus]
Nicole Boczek, Ph.D., co-director of Mayo Clinic's Genetics and Genomics Laboratory, explains the innovative new hereditary hearing loss panel now available through Mayo Clinic Laboratories. This comprehensive panel analyzes 160 genes associated with hereditary hearing loss, assessing for both nonsyndromic hearing loss as well as syndromic hearing loss, which can be difficult to recognize clinically.