LAMA3 Gene Epidermolysis Bullosa Junctional Herlitz Type NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Skin Blistering Disorders
The LAMA3 Gene Epidermolysis Bullosa Junctional Herlitz Type NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the LAMA3 gene, which plays a critical role in maintaining skin integrity and structural stability. This specialized genetic analysis utilizes next-generation sequencing technology to provide comprehensive insights into one of the most severe forms of epidermolysis bullosa, enabling accurate diagnosis and informed medical decision-making.
What This Advanced Genetic Test Measures
Our sophisticated NGS-based test specifically targets and analyzes the LAMA3 gene, which encodes the alpha-3 chain of laminin-332—a crucial protein component of the basement membrane zone in skin and mucous membranes. The test detects:
- Point mutations, deletions, and insertions in the LAMA3 gene
- Pathogenic variants associated with junctional epidermolysis bullosa Herlitz type
- Autosomal recessive inheritance patterns
- Specific genetic markers that disrupt laminin-332 formation
Who Should Consider This Genetic Testing
This comprehensive genetic analysis is particularly recommended for individuals presenting with:
- Severe skin fragility and blistering from birth or early infancy
- Chronic wound healing complications and recurrent infections
- Nail dystrophy and dental enamel abnormalities
- Respiratory and gastrointestinal mucosal involvement
- Family history of epidermolysis bullosa or consanguineous parents
- Unexplained neonatal blistering or skin separation
Significant Benefits of Genetic Testing
Undergoing the LAMA3 gene test provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms or rules out junctional epidermolysis bullosa Herlitz type with molecular precision
- Personalized Treatment Planning: Enables targeted wound care and management strategies
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Facilitates proactive management of potential complications
- Research Contribution: Advances understanding of rare genetic skin disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identifies pathogenic mutations in the LAMA3 gene, confirming diagnosis of junctional epidermolysis bullosa Herlitz type
- Negative Result: No disease-causing variants detected in the LAMA3 gene
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene
All results include detailed interpretation by our board-certified genetic specialists and recommendations for next steps in clinical management.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States, with specialized collection centers 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 phlebotomists and genetic counselors ensures accessible, professional testing experiences nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic skin conditions affect your quality of life. Our expert team of genetic counselors and dermatology specialists is ready to guide you through the testing process and provide the answers you need for informed healthcare decisions.
Book your LAMA3 Gene Epidermolysis Bullosa Junctional Herlitz Type NGS Genetic DNA Test today by calling our dedicated genetic testing line at +1(267) 388-9828 or schedule your appointment online. Take control of your genetic health with the precision and expertise of America’s leading genetic diagnostics provider.
