Test Id : FOG87
OtoGenome Test for Hearing Loss
Useful For
Suggests clinical disorders or settings where the test may be helpful
The OtoGenome Test is best suited for individuals who have a diagnosed hearing loss for which an underlying etiology has not yet been identified. For an individual with apparently non-syndromic hearing loss, this panel covers both non-syndromic causes of hearing loss as well as those which can present as non-syndromic. Onset of features associated with a syndromic type of hearing loss can be delayed or variable. Given the genetic heterogeneity of hearing loss, the OtoGenome Test allows for a shortened diagnostic course by analyzing 110 genes in a single test.
Method Name
A short description of the method used to perform the test
Next Generation Sequencing (copy number analysis included when data meets quality standards); Sanger Confirmation; Droplet digital PCR (ddPCR)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
For a complete/specific gene list, see performing lab website for the most up to date information
Specimen Type
Describes the specimen type validated for testing
Whole Blood EDTA
Necessary Information
Hearing Loss and Related Syndrome Requisition Form with physician signature is required. Complete and send with specimen.
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Hearing Loss and Related Syndrome Requisition Form with physician signature is required. Complete and send with specimen.
Collection Container/Tube: Lavender top (EDTA)
Specimen Volume: 7 mL
Collection Instructions:
Submit one of the following:
Adult: Draw 7 mL whole blood in a EDTA lavender top tube(s), (K2EDTA or K3EDTA)
Infant: Draw 3 to 5 mL whole blood in a EDTA lavender top tube(s), (K2EDTA or K3EDTA)
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
5 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood EDTA | Ambient | 7 days |
Useful For
Suggests clinical disorders or settings where the test may be helpful
The OtoGenome Test is best suited for individuals who have a diagnosed hearing loss for which an underlying etiology has not yet been identified. For an individual with apparently non-syndromic hearing loss, this panel covers both non-syndromic causes of hearing loss as well as those which can present as non-syndromic. Onset of features associated with a syndromic type of hearing loss can be delayed or variable. Given the genetic heterogeneity of hearing loss, the OtoGenome Test allows for a shortened diagnostic course by analyzing 110 genes in a single test.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Hearing loss has an incidence of 1 in 250 births and over half of isolated childhood hearing loss has a genetic etiology, with many genes involved. Gene variants can be inherited in an autosomal recessive, autosomal dominant, X-linked, or mitochondrial pattern. The comprehensive approach of the OtoGenome Test now makes it possible to simultaneously screen 110 genes known to cause both nonsyndromic hearing loss and syndromes that can present as isolated hearing loss, such as Usher, Pendred, Jervell and Lange-Nielsen (JLNS), Branchio-Oto-Renal (BOR), Deafness and Male Infertility (DIS), Perrault, Alport, and Waardenburg syndromes.
The OtoGenome Test includes genes associated with:
Nonsyndromic hearing loss: 84 Genes
Usher syndrome (hearing loss and retinitis pigmentosa): CDH23, CLRN1, ADGRV1, MYO7A, PCDH15, USH1C, USH1G, USH2A, CIB2, HARS, WHRN
Pendred syndrome/Hearing loss with EVA or Mondini dysplasia: SLC26A4 (PDS)
Branchio-oto-renal syndrome: EYA1, SIX1
Waardenburg syndrome: EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10
Auditory neuropathy/dys-synchrony: OTOF, DFNB59
Maternally-inherited/Aminoglycoside-induced hearing loss: MTTS1 (tRNAser(UCN)), MTRNR1 (12S rRNA)
Jervell and Lange-Nielsen syndrome: KCNQ1, KCNE1
Perrault syndrome: CLPP, HARS2, HSD17B4, LARS2
Alport syndrome: COL4A5, COL4A3, COL4A4
Muckle Wells syndrome (Cryopyrin-associated periodic syndrome (CAPS)): NLRP3
Brown-Vialetto-Van Laere syndrome: SLC52A3, SLC52A2
CHARGE syndrome: CHD7
Hearing loss with cone-rode dystrophy: CEP78
Hearing loss with high myopia: SLITRK6
Determining the etiology of hearing loss is important in determining prognosis (eg. whether the severity of hearing impairment will worsen), optimal therapeutic interventions (eg. hearing aids, cochlear implant, sign language) and recurrence risks to future children and other family members. Furthermore, a positive result from this test may predict the onset of syndromic features (eg. adolescent-onset vision impairment in Usher syndrome, long QT in JLNS, renal abnormalities in BOR, or thyroid abnormalities in Pendred syndrome). On the other hand, a negative result substantially reduces the likelihood that a syndrome is present, alleviating concerns about the future development of these features. Among individuals with sensorineural hearing loss up to 5% have hearing loss associated with Pendred syndrome and up to 10% have Usher syndrome.
Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Interpretation
Provides information to assist in interpretation of the test results
This test is 99.93% sensitive (95% CI =99.92-99.94%) to detect variants changing a single base and 96.75% sensitive to detect insertion/deletions (95% CI =96.28-97.22%) within covered regions. Technical positive predictive value for single nucleotide variant changes is 99.42% (95% CI = 99.37-99.48%) and 94.16% (95% CI = 93.34-94.97%) for insertion/deletion changes within covered regions.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Akhtarkhavari T, Babanejad M, Mohseni M, et al. Linkage analysis of DFNB59, one of the prevalent loci in 36 iranian families with autosomal recessive non-syndromic hearing loss. Genetics in the 3rd Millennium. 12(2):3498-3503.
2. Calvo J, Rabionet R, Gasparini P, Estivill X. Connexins and Deafness Homepage.http://davinci.crg.es/deafness
3. Collin RW, Kalay E, Oostrik J, et al. Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Hum Mutat. 2007;28(7):718-723. doi:10.1002/humu.20510
4. Shearer AE, Black-Ziegelbein EA, Hildebrand MS, et al. Advancing genetic testing for deafness with genomic technology. J Med Genet. 2013;50(9):627-634. doi:10.1136/jmedgenet-2013-101749
5. Smith RJH, Shearer AE, Hildebrand MS, Camp GV. Deafness and Hereditary Hearing Loss. (Updated Jan 9, 2014) GeneReviews at [Internet]. University of Washington, Seattle, 1999. Updated April 3, 2025. Accessed July 10, 2025. Available at https://www.ncbi.nlm.nih.gov/books/NBK1434/
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Varies
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
This test was developed and its performance characteristics determined by the Laboratory for Molecular Medicine at Partners HealthCare Personalized Medicine (LMM, 65 Landsdowne St, Cambridge, MA 02139; 617-768-8500; CLIA#22D1005307). It has not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary.
CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
81430
81431
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| FOG87 | OtoGenome | Not Provided |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| FOG87 | OtoGenome | Not Provided |