ITGA6 Gene Epidermolysis Bullosa Junctional with Pyloric Atresia NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Skin and Gastrointestinal Disorders
The ITGA6 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 advanced testing methodology provides crucial insights for patients and families affected by this complex genetic disorder, enabling accurate diagnosis and informed medical decision-making.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test specifically targets mutations in the ITGA6 gene, which encodes the alpha-6 integrin subunit protein. This protein plays a critical role in maintaining the structural integrity of skin and mucous membranes by facilitating cell-to-cell adhesion in the basement membrane zone. The test identifies:
- Pathogenic variants in the ITGA6 gene sequence
- Point mutations, insertions, and deletions affecting gene function
- Autosomal recessive inheritance patterns
- Genetic markers associated with disease severity and progression
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with specific clinical symptoms or family history patterns:
- Newborns with extensive skin blistering and feeding difficulties
- Infants diagnosed with pyloric atresia requiring surgical intervention
- Patients with unexplained skin fragility and mucosal membrane involvement
- Individuals with family history of epidermolysis bullosa or gastrointestinal malformations
- Couples with previous affected children planning future pregnancies
- Patients with delayed wound healing and recurrent infections
Clinical Benefits of Genetic Testing
Undergoing the ITGA6 Gene Epidermolysis Bullosa Junctional with Pyloric Atresia NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out genetic causes of symptoms
- Personalized Treatment Planning: Enables targeted therapeutic approaches
- Family Planning Guidance: Provides recurrence risk information for future pregnancies
- Early Intervention: Facilitates proactive management of complications
- Genetic Counseling Support: Offers comprehensive family risk assessment
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your test results, including:
- Positive Result: Identification of pathogenic ITGA6 mutations confirms diagnosis and guides specialized care
- Negative Result: Absence of detectable mutations may suggest alternative diagnoses
- Variant of Uncertain Significance: Genetic changes requiring further clinical correlation
- Carrier Status: Identification of individuals with single gene copies who may pass the condition to offspring
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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, and San Jose. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our team of genetic specialists is ready to provide comprehensive testing and counseling services. Contact us today to schedule your genetic consultation and take control of your health journey.
Call or WhatsApp: +1(267) 388-9828 to book your ITGA6 Gene Epidermolysis Bullosa Junctional with Pyloric Atresia NGS Genetic DNA Test today. Our genetic counselors are available to answer your questions and guide you through the testing process.
