Hereditary hearing loss
Accurate answers through clinically relevant genetic analysis
Hereditary hearing loss encompasses a heterogeneous group of syndromic and nonsyndromic conditions. A comprehensive diagnostic genetic test is useful to help determine a molecular etiology for hearing loss and, therefore, identify other organ systems that may be involved. This testing also can establish a long-term prognosis and ascertain the inheritance pattern and recurrence risk within a family.
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 uncommon in tests available on the market today.
Clinically actionable answers
Our test analyzes 160 genes related to hereditary hearing loss. Our comprehensive panel assesses for nonsyndromic hearing loss as well as syndromic hearing loss, which can be difficult to recognize clinically. Diagnosis of syndromic hearing loss is critical, as it often can lead to disease-specific management.
Designed by genetic hearing loss experts
Our test was designed by experts in hereditary forms of hearing loss, with clinical practice and management in mind. Our goal is to provide clear diagnoses 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.
Which test should I order?
Hereditary hearing loss [A 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.
Learn more about how to order this evaluation at your institution.