Auditory/Hearing
for sensorineural hearing loss and syndromic deafness with gene panels and exome sequencing
System Profile
Yield Comparison
Clinical Dimensions
- Congenital sensorineural hearing loss
- Auditory neuropathy
- Progressive childhood hearing loss
- Syndromic and nonsyndromic congenital deafness (GJB2/GJB6)
- Pendred
- Usher
- Waardenburg
- BOR syndromes
- Absent startle to sound
- Poor response to voice
- Abnormal otoacoustic emissions
- Craniofacial anomalies associated with hearing loss (microtia, clefts)
- Difficulty hearing speech
- Turning TV volume high
- Not responding to name
- Trouble in noisy environments
- Progressive hearing loss
- Abnormal CMV IgM in congenital deafness
- Abnormal thyroid labs in Pendred
- Abnormal perchlorate discharge test
- Mitochondrial markers in progressive hearing loss
- Temporal bone CT with enlarged vestibular aqueduct
- Cochlear dysplasia
- Absent auditory nerve
- Inner ear malformations
- ABR confirming congenital hearing loss
- OAE absent
- Vestibular testing abnormal
- Imaging confirming inner ear malformations
- History of ototoxic drug reactions
- Hearing aids requiring ongoing management
- Cochlear implant programming/maintenance
- Ototoxicity after single or low doses of aminoglycosides (mitochondrial m.1555A>G)
- Drug-triggered hearing decline
- Cochlear implant placement
- Middle ear reconstruction
- Surgeries for microtia/atresia
- Audiology and speech therapy for hearing loss
- Auditory-verbal therapy
- Communication strategies
- Hearing aids
- Cochlear implants
- Bone-anchored hearing aids
- Audiology and ENT managing congenital or progressive hearing loss
- Cochlear implant center involvement
- ENT suggesting genetic deafness testing
- Congenital or early-onset hearing loss in multiple relatives
- Progressive deafness down maternal line (mitochondrial)
- Pendred, BOR, Usher in family
- No chronic loud noise exposure
- Hearing loss present from birth or early childhood
- Not explained by recurrent otitis alone
- Failed newborn hearing screen
- Congenital auditory neuropathy
- Early deficits in response to sound
- Strong family history of early deafness
Red Flag Combinations
Clinical patterns that should prompt consideration of genetic testing
Hearing loss + thyroid disease (Pendred)
Hearing loss + renal anomalies (BOR)
Deafness + retinitis pigmentosa (Usher)
Progressive loss + migraines (mitochondrial)
Screening Decision Pathway
When to consider genetic testing for auditory/hearing presentations
graph TD
START["Patient Presents with\nAuditory/Hearing Concerns"] --> SCREEN{"Screen for\nRed Flags"}
SCREEN --> RF1["Failed newborn hearing screen"]
SCREEN --> RF2["Failed rescreen"]
SCREEN --> RF3["Abnormal OAE/ABR"]
SCREEN --> RF4["School hearing checks showing loss"]
RF1 --> EVAL{"Multiple\nFlags Present?"}
RF2 --> EVAL{"Multiple\nFlags Present?"}
RF3 --> EVAL{"Multiple\nFlags Present?"}
RF4 --> EVAL{"Multiple\nFlags Present?"}
EVAL -->|Yes| TEST["Order Genetic Testing\n(ES/GS)"]
EVAL -->|No| MONITOR["Continue Monitoring\nRe-evaluate if New Findings"]
TEST --> DX["Molecular Diagnosis\n39-67% yield"]
style TEST fill:#dcfce7,stroke:#16a34a,color:#14532d
style DX fill:#bbf7d0,stroke:#16a34a,color:#14532d
style MONITOR fill:#fef3c7,stroke:#d97706,color:#92400e
Screening Red Flags
Findings on routine screening that may indicate genetic etiology
- Failed newborn hearing screen
- Failed rescreen
- Abnormal OAE/ABR
- School hearing checks showing loss
Exome / Genome Sequencing Indications
Clinical scenarios supporting ES/GS as a diagnostic approach
- Congenital or early-onset SNHL
- Progressive hearing loss with syndromic features (thyroid, renal, ocular, cardiac)
- Negative GJB2 testing or targeted panels
Key Evidence
Published studies supporting genetic testing for auditory/hearing conditions
| Study | Year | Type | Sample | Yield | Key Finding |
|---|---|---|---|---|---|
| Utilization of Diagnostic Testing for Pediatric Sensorineura... | 2018 | Cohort | None | 39% | 39% overall yield in 244 bilateral SNHL patients; highest yields in congenital-o... |
| The Etiological Evaluation of Sensorineural Hearing Loss in ... | 2019 | Cohort | None | 67% | 67% yield using stepwise approach (GJB2 first, then CMA, then targeted panel) in... |
| Comprehensive Genetic Study of Retinitis Pigmentosa and Ushe... | 2021 | Cohort | 591 | 37.4-55.2% | Genetic screening of 591 Italian RP/Usher probands achieved 37.4-55.2% diagnosti... |
| Exome Sequencing for Childhood Hearing Loss: A Diagnostic Ap... | 2021 | Cohort | None | 47.2% | ES achieved 47.2% diagnostic yield for childhood hearing loss, with higher yield... |
| 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Ca... | 2021 | Cohort | 2183 | 25% | 25% diagnostic yield in 2183 rare disease families; monogenic disorders 35% vs c... |
| Whole Exome Sequencing for Sensorineural Hearing Loss in a P... | 2022 | Cohort | 71 | 21.1% | WES identified causative variants in 21.1% of Portuguese SNHL patients, expandin... |
| Stepwise Genetic Testing Strategy for Hearing Loss: A Compre... | 2022 | Cohort | 152 | 73% | Stepwise genetic strategy achieved 73% overall yield for hearing loss: hotspot s... |
| WES-based panel for non-syndromic hearing loss after negativ... | 2022 | Cohort | None | None | WES-based reanalysis after negative hearing loss panel identified STRC copy numb... |
Updated: 2026-02-25
Curated by: human
Status: human reviewed