Hearing Loss Genetic Panel
Hereditary hearing loss screening
What is this test?
Our Hearing Loss Genetic Panel screens over 150 genes associated with syndromic and non-syndromic hereditary hearing loss. Approximately 50–60% of congenital hearing loss has a genetic cause. Identifying the specific gene mutation can predict whether hearing loss will be stable or progressive, guide cochlear implant candidacy, and reveal associated conditions that require surveillance.
Key Benefits
Some genetic forms of hearing loss are stable, while others are progressive. Knowing the gene mutation helps predict the course and plan interventions.
Certain genetic causes (e.g., GJB2 mutations) are associated with excellent cochlear implant outcomes, while others (e.g., auditory neuropathy genes) may have variable results.
Some hearing loss genes are associated with vision loss (Usher syndrome), kidney disease (Alport syndrome), or cardiac conduction defects (Jervell and Lange-Nielsen) — early detection enables proactive monitoring.
Instead of testing GJB2 alone and then adding genes one at a time, this panel covers all known hearing loss genes in a single comprehensive test.
How It Works
Your audiologist or ENT specialist documents the hearing loss pattern and orders genetic testing.
A simple blood draw or saliva kit is used — the test is non-invasive and painless.
150+ hearing loss genes are sequenced with deep coverage, including the critical GJB2/GJB6 locus and deletion analysis.
Variants are reviewed by geneticists with expertise in hearing loss, correlating genotype with audiometric profile.
The report includes molecular diagnosis, prognosis for hearing stability, cochlear implant outcome prediction, and syndromic surveillance recommendations.
Who should consider this test?
- Newborns who do not pass universal hearing screening
- Children or adults with progressive or unexplained sensorineural hearing loss
- Individuals with a family history of hereditary deafness
- Patients being evaluated for cochlear implant candidacy
- Those with hearing loss plus other features (vision changes, kidney issues, thyroid problems)
Conditions Screened
Accuracy & Clinical Evidence
>99% analytical sensitivity for SNVs and small indels; GJB2 (connexin 26) sequenced to full coverage
ACMG recommends genetic testing for all infants with confirmed permanent hearing loss. GJB2 variants account for approximately 50% of autosomal recessive non-syndromic hearing loss. Cochlear implant outcomes have been shown to correlate with genotype, with GJB2-positive patients achieving the best speech perception scores post-implant.
Scientific Detail
Sequencing covers all coding exons and ±20 bp flanking intronic regions of 150+ hearing loss genes. Special attention to GJB2 includes the non-coding exon 1 and upstream promoter region. GJB6 deletion analysis uses a breakpoint-spanning PCR approach. Variants are classified per ACMG/AMP guidelines with ClinGen hearing loss-specific criteria.
For Healthcare Providers
This panel covers 150+ genes for syndromic and non-syndromic hearing loss. GJB2 is sequenced to complete coverage including the upstream regulatory region. GJB6 deletions del(GJB6-D13S1830) and del(GJB6-D13S1854) are specifically targeted. SLC26A4 analysis includes Pendred syndrome-associated variants. CNV analysis is included for all targeted genes.
Important Limitations
- Hearing loss caused by environmental factors (noise exposure, ototoxic drugs, infections) will not be detected by this genetic test.
- Some large structural variants or complex rearrangements may require additional cytogenetic testing.
- Mitochondrial DNA variants (e.g., m.1555A>G associated with aminoglycoside-induced hearing loss) require a separate mitochondrial genome test.
- Variants of uncertain significance may be reported, particularly in less well-characterized genes.
- Epigenetic causes of hearing loss are not assessed.
Frequently Asked Questions
Test Details
Interested in this test?
Speak with our team to learn more about ordering this test or to get a consultation.
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