GJB6 Gene Deafness Autosomal Recessive Type 1B NGS Genetic DNA Test
Comprehensive Genetic Screening for Hereditary Hearing Loss
The GJB6 Gene Deafness Autosomal Recessive Type 1B NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for hereditary hearing disorders. This advanced test specifically targets mutations in the GJB6 gene, which encodes connexin 30, a crucial protein component of gap junctions in the inner ear. These gap junctions facilitate the exchange of ions and small molecules between supporting cells in the cochlea, playing a vital role in maintaining the potassium ion gradient essential for proper auditory function.
What This Test Measures and Detects
Our comprehensive NGS-based analysis examines the entire coding region of the GJB6 gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Large genomic deletions affecting the GJB6 gene
- Compound heterozygous mutations
- Pathogenic variants associated with DFNB1B hearing loss
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Congenital or early-onset sensorineural hearing loss
- Progressive hearing deterioration without apparent cause
- Family history of hereditary hearing impairment
- Consanguineous parentage with hearing loss in the family
- Unexplained bilateral hearing loss in childhood
- Planning pregnancy with family history of genetic hearing disorders
Significant Benefits of Genetic Testing
Undergoing the GJB6 gene test provides numerous advantages:
- Early Intervention Planning: Enables timely implementation of hearing aids, cochlear implants, or communication strategies
- Accurate Diagnosis: Provides definitive genetic confirmation of DFNB1B hearing loss
- Family Planning Guidance: Helps couples understand recurrence risks for future children
- Personalized Management: Allows for tailored educational and therapeutic approaches
- Genetic Counseling: Facilitates informed decision-making for at-risk family members
- Research Contribution: Advances understanding of genetic hearing disorders
Understanding Your Test Results
Our comprehensive genetic report includes:
- Positive Result: Indicates presence of pathogenic GJB6 mutations, confirming autosomal recessive deafness type 1B diagnosis
- Negative Result: Suggests GJB6 mutations are not the cause of hearing loss, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes requiring additional family studies for interpretation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without symptoms
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Hearing Health
Don’t let genetic hearing loss remain a mystery. Our expert team of genetic counselors and ENT specialists are ready to guide you through the testing process and help interpret your results. Early genetic diagnosis can significantly impact treatment outcomes and quality of life.
Call us today at +1(267) 388-9828 to schedule your appointment or book online through our secure patient portal. Take the first step toward understanding your genetic hearing health with confidence and clarity.
