OtoSCOPE v9

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000593050.2
Last updated: 2023-01-13
Test version history
- 593050.2, last updated: 2023-01-13
- 593050.1, last updated: 2021-05-07

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Deafness
Offered by Molecular Otolaryngology and Renal Research Laboratories

Performance Characteristics

Entire test performed in-house

greater than 99%

Citations

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

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.

Is proficiency testing performed for this test? HelpWhether the test undergoes periodic internal or external evaluation of the accuracy of test results. Lab-provided.: Yes
Method used for proficiency testingHelpMethod used for external or internal evaluation of the accuracy of test results. Lab-provided.: Alternative Assessment

FDA Category Designation: FDA exercises enforcement discretion

Reviews

Clinical resources

Consumer resources

MedlinePlus

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

OtoSCOPE v9

Performance Characteristics

Availability

Analytical Validity

Citations

Assay Limitation(s)

Proficiency Testing (PT)

FDA Regulatory Clearances of the Test

Reviews

Clinical resources

Consumer resources