PLEC Gene Epidermolysis Bullosa Simplex Ogna Type NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Skin Disorders
The PLEC Gene Epidermolysis Bullosa Simplex Ogna Type NGS Genetic DNA Test represents a significant advancement in dermatological genetic diagnostics. This specialized test utilizes next-generation sequencing technology to identify mutations in the PLEC gene, which plays a critical role in maintaining skin integrity and structural stability. Epidermolysis bullosa simplex Ogna type is a rare inherited condition characterized by skin fragility and blistering, particularly affecting the hands and feet.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the PLEC gene, which encodes plectin – a crucial protein that acts as a molecular bridge between intermediate filaments and other cytoskeletal components in skin cells. The test identifies:
- Point mutations in the PLEC gene coding regions
- Small insertions and deletions affecting gene function
- Copy number variations that may impact protein production
- Specific genetic variants associated with Ogna type epidermolysis bullosa
- Inheritance patterns through family genetic analysis
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals experiencing:
- Recurrent skin blistering without significant trauma
- Skin fragility affecting palms and soles specifically
- Family history of similar dermatological conditions
- Unexplained nail dystrophy or abnormalities
- Diagnostic uncertainty regarding blistering skin disorders
- Planning for family genetic counseling sessions
- Suspected inherited connective tissue disorders
Clinical Benefits of PLEC Gene Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out epidermolysis bullosa simplex Ogna type with high precision
- Treatment Guidance: Informs appropriate dermatological management strategies
- Genetic Counseling: Provides essential information for family planning decisions
- Prognostic Insight: Helps predict disease progression and potential complications
- Differential Diagnosis: Distinguishes between similar blistering skin conditions
- Research Contribution: Advances understanding of rare genetic skin disorders
Understanding Your Test Results
Your genetic test results will be thoroughly explained during a comprehensive consultation with our genetic specialists. Possible outcomes include:
- Positive Result: Identifies specific PLEC gene mutations confirming diagnosis
- Negative Result: No detected mutations, suggesting alternative diagnoses
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Identifies individuals who may pass the condition to offspring
All results include detailed explanations of inheritance patterns, recurrence risks, and clinical implications for you and your family members.
Test Pricing and Availability
| Test Component | 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, and San Jose. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Sample Collection and Processing
This test requires one of the following sample types:
- Blood sample collected by trained phlebotomists
- Extracted DNA from previous genetic testing
- One drop of blood on FTA card for convenient collection
Turnaround time for results is typically 3 to 4 weeks from sample receipt. Pre-test requirements include providing complete clinical history and participating in genetic counseling to establish family pedigree charts.
Take Control of Your Genetic Health
Understanding your genetic predisposition to skin disorders can significantly impact your quality of life and treatment outcomes. Our team of genetic specialists, dermatologists, and counselors are dedicated to providing comprehensive care and support throughout your testing journey.
Ready to schedule your PLEC Gene Epidermolysis Bullosa Simplex Ogna Type NGS Genetic DNA Test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online to begin your journey toward accurate diagnosis and personalized care.
