COL7A1 Gene Epidermolysis Bullosa Dystrophica NGS Genetic DNA Test
Comprehensive Genetic Testing for Dystrophic Epidermolysis Bullosa
The COL7A1 Gene Epidermolysis Bullosa Dystrophica NGS Genetic DNA Test represents a significant advancement in the diagnosis and management of dystrophic epidermolysis bullosa (DEB), a rare genetic disorder affecting skin integrity. This sophisticated diagnostic tool utilizes next-generation sequencing technology to provide precise genetic information crucial for accurate diagnosis and personalized treatment planning.
What This Test Measures and Detects
This specialized genetic test focuses on analyzing the COL7A1 gene, which encodes type VII collagen – a critical protein component of anchoring fibrils that secure the epidermis to the underlying dermis. The test specifically identifies:
- Pathogenic mutations in the COL7A1 gene
- Single nucleotide variants and small insertions/deletions
- Inheritance patterns (autosomal dominant or recessive)
- Specific genetic variants associated with disease severity
- Carrier status in unaffected family members
Who Should Consider This Test
This genetic test is recommended for individuals presenting with characteristic symptoms of dystrophic epidermolysis bullosa, including:
- Fragile skin that blisters easily from minor friction or trauma
- Recurrent skin erosions and chronic wounds
- Nail dystrophy or complete nail loss
- Mucous membrane involvement (oral, ocular, gastrointestinal)
- Scarring with milia formation
- Family history of similar skin conditions
- Unexplained infantile blistering disorders
- Suspected carriers with affected family members
Clinical Benefits of Genetic Testing
Undergoing COL7A1 genetic testing provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms DEB diagnosis and differentiates from other EB subtypes
- Prognostic Information: Helps predict disease severity and progression
- Genetic Counseling: Enables informed family planning decisions
- Personalized Care: Guides appropriate wound care and management strategies
- Early Intervention: Facilitates timely implementation of preventive measures
- Research Participation: May qualify patients for clinical trials and emerging therapies
Understanding Your Test Results
Test results are typically available within 3-4 weeks and are interpreted by our team of certified genetic counselors and dermatology specialists. Possible outcomes include:
- Positive Result: Identification of pathogenic COL7A1 mutations confirming DEB diagnosis
- Negative Result: No disease-causing variants detected in the COL7A1 gene
- Variant of Uncertain Significance: Genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of a mutated gene
Our genetic counseling team provides comprehensive result interpretation and discusses implications for patients and family members.
Test Pricing Information
| Test Description | Regular Price | Discount Price |
|---|---|---|
| COL7A1 Gene Epidermolysis Bullosa Dystrophica NGS Genetic DNA Test | $700 USD | $500 USD |
Sample Collection and Processing
We accept multiple sample types for your convenience:
- Blood sample (preferred method)
- Extracted DNA
- One drop of blood on FTA card
Pre-test Requirements: Please provide complete clinical history and participate in a genetic counseling session to create a detailed family pedigree chart.
Nationwide Testing Availability
GGC DNA testing services are available across the United States with branches in all 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 collection centers ensures convenient access to quality genetic testing services.
Take Control of Your Genetic Health Today
Early and accurate diagnosis of dystrophic epidermolysis bullosa through COL7A1 genetic testing can significantly impact treatment outcomes and quality of life. Our team of genetic specialists, dermatologists, and counselors are committed to providing comprehensive support throughout your testing journey.
Ready to schedule your test? Contact us today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health with confidence and clarity.
