Connexin 26 Mutation Detection Test
Understanding Genetic Hearing Loss Detection
The Connexin 26 Mutation Detection Test represents a breakthrough in genetic diagnostics for hereditary hearing impairment. This specialized molecular test focuses on identifying mutations in the GJB2 gene, which produces the connexin 26 protein essential for proper inner ear function and auditory signal transmission. As one of the most common genetic causes of non-syndromic hearing loss worldwide, connexin 26 mutations account for approximately 50% of autosomal recessive congenital deafness cases.
What Does the Test Measure?
This advanced genetic screening specifically detects:
- Mutations in the GJB2 gene encoding connexin 26 protein
- Common pathogenic variants including 35delG, 167delT, and 235delC
- Autosomal recessive inheritance patterns for hearing loss
- Genetic predisposition to congenital or early-onset deafness
- Carrier status for connexin 26-related hearing disorders
Who Should Consider This Genetic Screening?
Clinical Indications and Symptoms
This test is particularly recommended for:
- Infants and children with unexplained sensorineural hearing loss
- Individuals with family history of congenital deafness
- Couples planning pregnancy with known hearing loss in family
- Patients with progressive hearing impairment without clear cause
- Newborns failing routine hearing screenings
- Individuals with consanguineous parentage
Comprehensive Benefits of Genetic Testing
Early detection through Connexin 26 mutation analysis provides numerous advantages:
- Early Intervention: Enables timely hearing rehabilitation and language development
- Family Planning Guidance: Informs reproductive decisions and genetic counseling
- Accurate Diagnosis: Distinguishes genetic from environmental hearing loss causes
- Personalized Management: Guides appropriate hearing aid or cochlear implant decisions
- Psychological Preparation: Helps families understand and prepare for hearing challenges
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will fall into several categories:
- Positive for Mutation: Indicates presence of pathogenic connexin 26 variants associated with hearing loss risk
- Negative Result: No detected mutations in the analyzed GJB2 gene regions
- Carrier Status: Single mutation copy indicating carrier state without hearing impairment
- Variant of Unknown Significance: Genetic changes with unclear clinical implications
All results include comprehensive genetic counseling recommendations and should be discussed with your healthcare provider, neurologist, or ENT specialist for proper interpretation and management planning.
Test Pricing and Availability
| Test Description | Price (USD) |
|---|---|
| Connexin 26 Mutation Detection Test – Discount Price | $262 |
| Connexin 26 Mutation Detection Test – Regular Price | $450 |
Testing Process Details
Turnaround Time: Sample submitted by 11 AM; Report available in 13 working days
Sample Requirements: 4 mL (2 mL minimum) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
Mandatory Documentation: Duly filled Genomics Clinical Information Requisition Form (Form 20) is required.
Nationwide Testing Availability
We have diagnostic branches across all major cities in the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art molecular diagnostics laboratories ensure accurate and reliable genetic testing results.
Take Action for Genetic Health
Don’t wait to understand your genetic hearing health. Early detection of connexin 26 mutations can significantly impact treatment outcomes and family planning decisions. Our specialized team of genetic counselors and molecular diagnostics experts are ready to assist you.
Book Your Connexin 26 Mutation Detection Test Today!
Call or WhatsApp: +1(267) 388-9828
Schedule your appointment and take the first step toward comprehensive genetic hearing loss assessment.
