COL17A1 Gene Epidermolysis Bullosa Junctional NGS Genetic DNA Test
Comprehensive Genetic Testing for Skin Integrity Disorders
The COL17A1 Gene Epidermolysis Bullosa Junctional NGS Genetic DNA Test represents a breakthrough in dermatological genetic diagnostics, providing precise identification of mutations associated with junctional epidermolysis bullosa (JEB). This sophisticated testing methodology employs next-generation sequencing technology to analyze the COL17A1 gene, which encodes type XVII collagen—a critical component of hemidesmosomes that anchor the epidermis to the dermis.
What Does This Test Measure?
This advanced genetic test specifically targets and sequences the entire COL17A1 gene to identify pathogenic variants, including:
- Point mutations affecting collagen XVII structure
- Frameshift mutations disrupting protein function
- Nonsense mutations leading to premature stop codons
- Splice site variants affecting mRNA processing
- Deletions and insertions altering gene integrity
The test provides comprehensive coverage of all coding regions, exon-intron boundaries, and known regulatory elements of the COL17A1 gene, ensuring maximum detection sensitivity for autosomal recessive junctional epidermolysis bullosa.
Who Should Consider This Genetic Test?
This specialized genetic screening is recommended for individuals presenting with:
- Unexplained skin fragility and easy blistering from minor trauma
- Chronic non-healing wounds or erosions
- Nail dystrophy or loss
- Alopecia or hair loss patterns
- Dental enamel defects and oral mucosal involvement
- Family history of epidermolysis bullosa or consanguineous parents
- Unexplained infant mortality with skin manifestations
- Previous inconclusive skin biopsy results
Clinical Benefits of COL17A1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out junctional epidermolysis bullosa with molecular precision
- Prognostic Information: Helps predict disease severity and progression patterns
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Personalized Care: Guides appropriate wound management and preventive strategies
- Therapeutic Guidance: Informs potential targeted treatments and clinical trial eligibility
- Genetic Counseling: Provides basis for comprehensive family risk assessment
Understanding Your Test Results
Your genetic test report will include detailed interpretation of findings:
- Positive Result: Identification of pathogenic COL17A1 mutations confirms diagnosis of junctional epidermolysis bullosa
- Negative Result: No detected mutations significantly reduces likelihood of COL17A1-related JEB
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation who may pass condition to offspring
All results are accompanied by comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing and Availability
| Test Component | Price (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
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with specialized collection centers in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network ensures convenient access to this advanced genetic testing regardless of your location.
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session prior to testing
- Detailed pedigree chart of affected family members
- Review of previous dermatological evaluations
Take Control of Your Genetic Health Today
Don’t let uncertainty about skin fragility conditions affect your quality of life. Our COL17A1 Gene Epidermolysis Bullosa Junctional NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. With our discounted price of $500 (regularly $700), this comprehensive genetic analysis is both accessible and invaluable for individuals and families affected by suspected junctional epidermolysis bullosa.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward definitive diagnosis and personalized care management.
