LAMB3 Gene Epidermolysis Bullosa Junctional Herlitz Type NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Blistering Skin Disorders
The LAMB3 Gene Epidermolysis Bullosa Junctional Herlitz Type NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare dermatological conditions. This specialized genetic test utilizes cutting-edge next-generation sequencing technology to identify mutations in the LAMB3 gene, which plays a critical role in maintaining skin integrity and structural stability.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based analysis specifically targets the LAMB3 gene located on chromosome 1q32. This gene encodes laminin beta-3, a crucial protein component of the skin’s basement membrane zone. The test detects:
- Point mutations, deletions, and insertions in the LAMB3 gene
- Pathogenic variants associated with junctional epidermolysis bullosa
- Genetic markers for Herlitz type severity classification
- Inheritance patterns for family genetic counseling
Who Should Consider LAMB3 Genetic Testing
This specialized genetic test is recommended for individuals presenting with:
- Unexplained skin fragility and blistering from birth or early infancy
- Recurrent mucosal membrane involvement affecting mouth, eyes, and respiratory tract
- Family history of epidermolysis bullosa or similar blistering disorders
- Diagnostic uncertainty in severe dermatological conditions
- Planning for pregnancy with known family history of genetic skin disorders
Significant Benefits of Early Genetic Diagnosis
Undergoing LAMB3 genetic testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out junctional epidermolysis bullosa with precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Research Opportunities: Connects patients with clinical trials and emerging treatments
Understanding Your Genetic Test Results
Our comprehensive genetic report provides detailed analysis and interpretation:
- Positive Result: Identifies pathogenic LAMB3 mutations confirming junctional epidermolysis bullosa diagnosis
- Negative Result: No detected mutations in the LAMB3 gene, suggesting alternative diagnoses
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines inheritance patterns for family members
All results include detailed explanations and recommendations for follow-up care with dermatology and genetics specialists.
Test Pricing and Service Details
| Service | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified genetic counselors and dermatology specialists ensures accessible care for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic skin conditions impact your quality of life. Our LAMB3 Gene Epidermolysis Bullosa Junctional Herlitz Type NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. With rapid turnaround times of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or convenient FTA card testing, getting answers has never been easier.
Ready to begin your genetic testing journey? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and accessing personalized treatment options.
