title: Navigating genetic diagnostics in patients with hearing loss.
abstract: In the age of targeted genomic enrichment and massively parallel sequencing, there is no more efficient genetic testing method for the diagnosis of hereditary hearing loss. More clinical tests are on the market, which can make choosing good tests difficult.
  
  
  
  More and larger comprehensive genetic studies in patients with hearing loss have been published recently. They remind us of the importance of looking for both single nucleotide variation and copy number variation in all genes implicated in nonsyndromic hearing loss. They also inform us of how a patient's history and phenotype provide essential information in the interpretation of genetic data.
  
  
  
  Choosing the most comprehensive genetic test improves the chances of a genetic diagnosis and thereby impacts clinical care.
authors.affiliation: aMolecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa bDepartment of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine cInterdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa, USA.
authors.forename: Christina M
authors.initials: CM
authors.lastname: Sloan-Heggen
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
mesh_terms: D056915:DNA Copy Number Variations; D005819:Genetic Markers; D005820:Genetic Testing / Q000379:methods*; D034381:Hearing Loss / Q000175:diagnosis* / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D020641:Polymorphism, Single Nucleotide
chemical_list: D005819:Genetic Markers