GTR Home > Tests > OtoSCOPE v9

Performance Characteristics



  • Entire test performed in-house

Analytical Validity


greater than 99%


  • Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. - PubMed ID: 21078986
  • Copy number variants are a common cause of non-syndromic hearing loss. - PubMed ID: 24963352

Assay Limitation(s)


OtoSCOPE is designed to evaluate the exonic and flanking intronic sequence of genes involved in non-syndromic hearing loss and select types of syndromic hearing loss. Deep intronic or regulatory variants of the genes included in OtoSCOPE® v9 (224 genes) are not detected by this assay. Absence of a plausible explanation for a person’s hearing loss by the OtoSCOPE v9 (224 genes) panel does not exclude a genetic basis for this person’s hearing loss. For example, it is possible that the genomic region (i.e. a novel gene) where a disease-causing mutation exists in this person was not captured using the current technology. Otoscope testing is performed on DNA extracted from peripheral blood or saliva, and detected heteroplasmy is reflective of the provided sample type only. Tissue- specific heteroplasmy (i.e. inner ear) or somatic changes are not detected by this test.

Proficiency Testing (PT)

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Alternative Assessment

FDA Regulatory Clearances of the Test

FDA Category Designation
FDA exercises enforcement discretion

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