GJB4 Gene Erythrokeratodermia Variabilis et Progressive NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Skin Disorders
The GJB4 Gene Erythrokeratodermia Variabilis et Progressive NGS Genetic DNA Test represents a breakthrough in dermatological genetic diagnostics. This advanced test specifically targets the GJB4 gene, which encodes connexin 30.3, a crucial protein component of gap junctions in skin cells. Mutations in this gene disrupt normal cellular communication, leading to the characteristic symptoms of erythrokeratodermia variabilis et progressive – a rare genetic skin disorder affecting keratinization and skin barrier function.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the entire GJB4 gene to identify:
- Point mutations and single nucleotide variations
- Insertions and deletions affecting gene function
- Missense, nonsense, and frameshift mutations
- Regulatory region abnormalities
- Both inherited and de novo genetic variations
The test provides precise identification of pathogenic variants responsible for erythrokeratodermia variabilis et progressive, enabling accurate diagnosis and proper classification of this complex dermatological condition.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Variable erythematous patches that migrate and change shape
- Progressive hyperkeratotic plaques on extremities
- Family history of similar skin manifestations
- Undiagnosed congenital or childhood-onset skin disorders
- Symptoms worsening with temperature changes or emotional stress
- Persistent skin thickening despite conventional treatments
- Suspected autosomal dominant inheritance pattern of skin conditions
Significant Benefits of Genetic Testing
Undergoing the GJB4 genetic test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out erythrokeratodermia variabilis et progressive
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Genetic Counseling: Provides essential information for family planning decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Differential Diagnosis: Distinguishes from other similar skin conditions
- Research Contribution: Advances understanding of rare genetic skin disorders
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identifies a pathogenic mutation in the GJB4 gene, confirming the diagnosis of erythrokeratodermia variabilis et progressive
- Negative Result: No disease-causing mutations detected in the GJB4 gene, suggesting alternative diagnoses
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if you carry a single copy of a mutated gene
All results are accompanied by detailed clinical correlations and recommendations for follow-up care with dermatology and genetics specialists.
Test Pricing and Availability
| Test Description | Regular Price | Discount Price |
|---|---|---|
| GJB4 Gene Erythrokeratodermia Variabilis et Progressive NGS Genetic DNA Test | $700 USD | $500 USD |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Informed consent for genetic testing procedures
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your skin condition continue. Our GJB4 genetic test provides the clarity needed for proper diagnosis and effective treatment planning. With our discounted price of $500 and comprehensive NGS technology, you’re investing in accurate genetic information that can transform your dermatological care.
Ready to schedule your genetic 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 with compassion and expertise.
Take the first step toward understanding your genetic makeup and achieving better skin health outcomes. Book your GJB4 Gene Erythrokeratodermia Variabilis et Progressive NGS Genetic DNA Test now and receive professional genetic counseling to interpret your results effectively.
