GJB2 Gene Deafness Autosomal Recessive Type 1A NGS Genetic DNA Test
Understanding Hereditary Hearing Loss
Hearing loss affects millions of people worldwide, and genetic factors play a significant role in many cases of congenital and early-onset hearing impairment. The GJB2 gene, which encodes the connexin 26 protein, is responsible for the most common form of nonsyndromic hereditary hearing loss known as autosomal recessive deafness type 1A (DFNB1A). This condition accounts for approximately 50% of all cases of autosomal recessive nonsyndromic hearing loss in many populations.
What Does This Test Measure?
The GJB2 Gene Deafness Autosomal Recessive Type 1A NGS Genetic DNA Test utilizes advanced Next-Generation Sequencing (NGS) technology to comprehensively analyze the entire GJB2 gene for mutations and variations. This sophisticated testing approach detects:
- Point mutations in the GJB2 gene coding region
- Small insertions and deletions affecting gene function
- Specific pathogenic variants associated with DFNB1A
- Carrier status for autosomal recessive inheritance patterns
- Compound heterozygous mutations that may cause hearing loss
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Unexplained congenital or early-onset hearing loss
- Progressive hearing impairment without clear environmental causes
- Family history of hereditary hearing disorders
- Parents of children with hearing loss seeking genetic answers
- Couples planning pregnancy with family history of hearing impairment
- Individuals from populations with high carrier frequencies for GJB2 mutations
Clinical Indications Include:
- Sensorineural hearing loss of unknown etiology
- Bilateral hearing impairment presenting in infancy or childhood
- Progressive hearing loss affecting high frequencies initially
- Family members of individuals with confirmed GJB2 mutations
- Patients being evaluated for cochlear implantation candidacy
Benefits of Genetic Testing for Hearing Loss
Understanding the genetic basis of hearing loss provides numerous advantages:
- Accurate Diagnosis: Confirms the specific genetic cause of hearing impairment
- Treatment Guidance: Helps determine appropriate interventions and hearing aid options
- Early Intervention: Enables timely management strategies for better outcomes
- Genetic Counseling: Provides valuable information for family planning decisions
- Prognostic Information: Offers insights into potential progression and severity
- Educational Planning: Assists in developing appropriate educational support systems
- Psychological Benefits: Reduces uncertainty and provides closure for families
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
Possible Result Interpretations:
- Positive for Pathogenic Mutations: Indicates the presence of disease-causing variants in both copies of the GJB2 gene, confirming autosomal recessive deafness type 1A diagnosis
- Carrier Status: Detection of a single pathogenic mutation indicates carrier status without hearing impairment
- Negative Result: No pathogenic GJB2 mutations detected, suggesting other genetic or environmental causes for hearing loss
- Variants of Uncertain Significance: Some genetic changes may require additional family studies for interpretation
Clinical Implications:
Positive results provide definitive diagnosis and enable targeted management strategies, including appropriate hearing amplification, communication approaches, and educational interventions. Carrier status information is valuable for reproductive planning and genetic counseling.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | GJB2 Gene Deafness Autosomal Recessive Type 1A NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | ENT Doctor, Genetics Department |
Pre-Test Requirements
Before scheduling your test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Family pedigree analysis to identify inheritance patterns
- Review of previous audiological evaluations and medical records
- Discussion of potential outcomes and their implications
Nationwide Accessibility
We have testing facilities conveniently located across the United States, serving major metropolitan areas including:
- New York City and surrounding tri-state area
- Los Angeles and Southern California region
- Chicago and Midwest locations
- Houston, Dallas, and Texas facilities
- Miami, Orlando, and Florida centers
- Washington DC, Baltimore, and Mid-Atlantic sites
- San Francisco, Seattle, and West Coast laboratories
Take Control of Your Hearing Health
Understanding the genetic basis of hearing loss can transform your approach to treatment and management. Our comprehensive GJB2 genetic testing provides definitive answers and empowers you to make informed decisions about your healthcare journey.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process.
Don’t let uncertainty about your hearing health continue. Take the first step toward clarity and comprehensive care with our advanced genetic testing services.
