Auditory Neuropathy and Non-Syndromic Hearing Loss Secondary to Otoferlin (OTOF) Mutations
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About the Disorder | Indications | Specimen l Testing Methodology l Sensitivity l Turnaround Time l Cost l CPT Codes l Shipping l Results l Contact Us
About the Disorder
Hereditary hearing loss affects about 1 in 1,500 infants and accounts for more than 50% of the causes of childhood deafness. Mutations in many different genes result in hereditary hearing loss. Biallelic mutations in the OTOF gene, which encodes for the protein otoferlin, is a common cause of auditory neuropathy and less commonly, non-syndromic hearing loss. Auditory neuropathy is characterized by varying levels of hearing loss on standard hearing tests, very abnormal auditory brainstem testing and signs of normal hair cell function (i.e., the presence of otoacoustic emmison and cochlear microphonics). Children with auditory neuropathy typically have poor speech discrimination and do not respond well to hearing aids. Cochlear implants are often beneficial in this group of patients. Non-syndromic hearing loss associated with mutations in OTOF and designated as DFNB9 is inherited as an autosomal recessive disorder and accounts for approximately 5% of all childhood sensorineural hearing loss.
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Indications
- Auditory neuropathy or non-syndromic hearing loss of unknown etiology (with normal connexin 26 or Tier I test results)
- Carrier testing in relative of patient with proven OTOF mutation
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Specimen
At least 3 mls whole blood in purple top (EDTA) tube. Alternately, three cytobrushes (cheek swabs) may be collected. (Please call 1-513-636-4474 for a free cytobrush collection kit.) Label each tube or brush with patient's name, birth date, and date of collection.
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Methodology
PCR-based sequencing of the OTOF gene and its exon / intron boundaries.
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Test Sensitivity and Specificity
PCR-based sequencing detects 99% of the reported mutations in OTOF. The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed. Multiple exon deletions and insertions may not be identified by this methodology. Mutations in OTOF may account for approximately 5% of congenital sensorineural hearing loss.
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Turnaround Time
4-5 weeks
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Cost
Please call 866-450-4198 for current pricing, discounts and insurance preauthorization.
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CPT Codes
Sequence analysis: 83890, 83898(x47), 83894(x47), 83891(x47), 83904(x94), 83912
Family-specific analysis*: 83890, 83898, 83894, 83891, 83904, 83912
*By prior arrangement only.
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Shipping Instructions
Please enclose test requisition and audiogram with sample. All information must be completed before sample can be processed. Place samples in styrofoam mailer and ship at room temperature by overnight Federal Express to arrive Monday through Friday.
Ship to
Cytogenetics and Molecular Genetics Laboratories
3333 Burnet Avenue NRB 1042
Cincinnati, OH 45229
513-636-4474
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Results
Each test report includes a detailed interpretation of the genetic findings, the clinical significance of the result, and specific recommendations for clinical management and additional testing, if warranted. Results will be reported to the referring physician or health care provider as specified on the test requisition form.
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Contact Us
For additional inquiries, contact us:
Phone 513-636-4474
Fax 513-636-4373
Email moleculargenetics@cchmc.org
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