ITGB4 Gene Epidermolysis Bullosa Junctional with Pyloric Atresia NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Inherited Disorders
The ITGB4 Gene Epidermolysis Bullosa Junctional with Pyloric Atresia NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare inherited conditions affecting both skin integrity and gastrointestinal development. This specialized test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the ITGB4 gene, which plays a critical role in maintaining skin structure and proper digestive system formation.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based test specifically targets the ITGB4 gene, analyzing its complete coding regions and adjacent intronic boundaries to detect:
- Point mutations and single nucleotide variants
- Small insertions and deletions (indels)
- Copy number variations affecting gene function
- Pathogenic variants disrupting integrin beta-4 protein production
- Genetic alterations impacting hemidesmosome formation
Who Should Consider This Genetic Test
This specialized diagnostic test is recommended for individuals presenting with:
- Newborns with skin blistering and gastrointestinal obstruction
- Infants demonstrating fragile skin that tears with minimal trauma
- Patients with congenital pyloric atresia requiring surgical intervention
- Individuals with mucosal blistering affecting oral, ocular, or respiratory tissues
- Family history of epidermolysis bullosa or gastrointestinal malformations
- Unexplained neonatal skin fragility with feeding difficulties
- Suspected junctional epidermolysis bullosa with associated anomalies
Clinical Benefits of Early Genetic Diagnosis
Obtaining a definitive genetic diagnosis through our ITGB4 gene test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms the specific genetic cause of symptoms
- Family Planning: Enables informed reproductive decisions for carriers
- Personalized Care: Guides specialized dermatological and surgical management
- Prognostic Information: Helps predict disease progression and complications
- Genetic Counseling: Provides comprehensive family risk assessment
- Research Opportunities: Connects patients with clinical trials and emerging therapies
Understanding Your Genetic Test Results
Our comprehensive genetic analysis provides clear, actionable results:
- Positive Result: Identifies pathogenic ITGB4 mutations confirming diagnosis, enabling targeted management strategies
- Negative Result: Excludes ITGB4-related disorders, suggesting alternative diagnostic considerations
- Variant of Uncertain Significance: Detects genetic changes requiring further clinical correlation and family studies
- Carrier Status: Identifies individuals with single mutation copies who may pass the condition to offspring
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
Before scheduling your ITGB4 genetic test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Informed consent understanding test limitations and benefits
Nationwide Testing Accessibility
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. Our network of certified genetic counselors and specialized dermatology centers ensures comprehensive care coordination.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your family’s future. Our specialized ITGB4 Gene Epidermolysis Bullosa Junctional with Pyloric Atresia NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With advanced NGS technology and expert genetic analysis, we deliver accurate, reliable results to guide your medical journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward definitive diagnosis and personalized care management.
