GJB2 Gene Keratoderma Palmoplantar with Deafness NGS Genetic DNA Test
Comprehensive Genetic Analysis for Skin and Hearing Disorders
The GJB2 Gene Keratoderma Palmoplantar with Deafness NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals experiencing the dual challenges of skin thickening and hearing loss. This advanced genetic test specifically targets mutations in the GJB2 gene, which encodes connexin 26 – a crucial protein component of gap junctions that facilitate intercellular communication in both skin and inner ear tissues.
What This Test Measures and Detects
Our comprehensive NGS-based genetic analysis examines the complete coding region of the GJB2 gene to identify:
- Pathogenic mutations causing palmoplantar keratoderma
- Genetic variants associated with progressive hearing loss
- Specific nucleotide changes affecting connexin 26 protein function
- Inheritance patterns for family risk assessment
- Novel genetic variations with clinical significance
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Progressive thickening of skin on palms and soles (palmoplantar keratoderma)
- Unexplained hearing loss or progressive deafness
- Family history of combined skin and hearing disorders
- Early-onset hearing impairment with skin abnormalities
- Suspected genetic syndromes affecting multiple organ systems
- Children with developmental delays and skin changes
Clinical Benefits of Genetic Testing
Undergoing the GJB2 genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms the genetic basis of symptoms
- Personalized Treatment: Guides targeted therapeutic approaches
- Family Planning: Enables informed reproductive decisions
- Early Intervention: Facilitates proactive management strategies
- Risk Assessment: Identifies at-risk family members
- Peace of Mind: Provides clarity and reduces diagnostic uncertainty
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic GJB2 mutations, confirming the genetic diagnosis and enabling targeted management
- Negative Result: Suggests that GJB2 mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes requiring additional clinical correlation
- Carrier Status: Determines inheritance risk for future generations
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | GJB2 Gene Keratoderma Palmoplantar with Deafness NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your symptoms prevent you from getting the answers you deserve. Our GJB2 genetic test provides the clarity needed to make informed healthcare decisions and develop effective management strategies. With our discounted price of only $500 USD, advanced genetic testing is more accessible than ever.
Ready to begin your genetic testing journey? Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or speak with our genetic counseling team. Take the first step toward understanding your genetic health and achieving better outcomes.
