LAMB3 Gene Epidermolysis Bullosa Junctional Non-Herlitz Type NGS Genetic DNA Test
Comprehensive Genetic Analysis for Skin Integrity Disorders
The LAMB3 Gene Epidermolysis Bullosa Junctional Non-Herlitz Type NGS Genetic DNA Test represents a cutting-edge diagnostic approach for individuals affected by inherited skin fragility conditions. This specialized genetic test focuses on identifying mutations in the LAMB3 gene, which plays a critical role in maintaining skin structural integrity through its involvement in laminin-332 protein formation.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based analysis specifically targets the LAMB3 gene located on chromosome 1q32. This test identifies pathogenic variants including:
- Missense, nonsense, and frameshift mutations
- Splice site alterations affecting protein function
- Deletions and insertions disrupting gene integrity
- Compound heterozygous mutations causing disease manifestation
Clinical Indications: Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Recurrent skin blistering following minor trauma
- Nail dystrophy and abnormal nail growth patterns
- Dental enamel defects and oral cavity involvement
- Alopecia or abnormal hair growth patterns
- Family history of epidermolysis bullosa disorders
- Unexplained skin fragility since infancy or childhood
Significant Benefits of Genetic Testing
Undergoing the LAMB3 genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out junctional epidermolysis bullosa non-Herlitz type
- 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
- Early Intervention: Facilitates timely management strategies to improve quality of life
Understanding Your Genetic Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic LAMB3 mutations, confirming diagnosis of junctional epidermolysis bullosa non-Herlitz type
- Negative Result: Suggests absence of detectable LAMB3 mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation who may pass the condition to offspring
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | LAMB3 Gene Epidermolysis Bullosa Junctional Non-Herlitz Type NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Accessibility Across the United States
We proudly serve patients throughout 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 dermatology specialists ensures comprehensive care coordination.
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to establish family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process for genetic testing
Take Control of Your Genetic Health Today
Don’t let uncertainty about your skin condition affect your quality of life. Our advanced LAMB3 genetic testing provides the clarity needed for effective management and treatment planning. With our discounted price of $500 USD, comprehensive genetic analysis is more accessible than ever.
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.
