Deafness, Autosomal Recessive 9 (DFNB9) via the OTOF Gene
Use
This test is intended for individuals exhibiting features suggestive of auditory neuropathy or autosomal recessive nonsyndromic hearing loss, and for reproductive partners of those with a known pathogenic variant in the OTOF gene. It aims to confirm the diagnosis, guide clinical management, and inform family planning decisions. The test employs next-generation sequencing combined with copy number variation analysis, useful for capturing both point mutations and larger genomic alterations potentially responsible for the phenotypic manifestations.
Special Instructions
Orders can include various platform options, such as Exome or Genome-based analysis, considering the specific needs of the clinical scenario. Methods like Exome-Wide CNV Analysis and STAT testing are available as add-ons, with a specific run order necessary for such cases. The test requires submission of clinical records for accurate variant interpretation. Contact the lab for further ordering information or support with result interpretation.
Limitations
The test is designed to detect variants within the OTOF gene but may not identify rare variants outside of typical coverage regions or those affecting functional regions not routinely analyzed. It does not account for regulatory region mutations or epigenetic modifications that might contribute to the hearing loss phenotype. Negative results do not entirely rule out a genetic basis for auditory neuropathy or hearing loss, as variants in other genes or multigenic interactions could be responsible.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided