CDSN Gene Peeling Skin Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Skin Peeling Disorders
The CDSN Gene Peeling Skin Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in dermatological genetic diagnostics. This advanced testing method utilizes Next-Generation Sequencing (NGS) technology to analyze the CDSN (corneodesmosin) gene, which plays a crucial role in maintaining skin integrity and barrier function. Mutations in this gene are directly associated with peeling skin syndrome type 1, a rare genetic disorder characterized by continuous skin peeling and fragility.
What This Test Measures and Detects
Our comprehensive genetic analysis specifically targets:
- Complete sequencing of the CDSN gene to identify pathogenic variants
- Detection of single nucleotide polymorphisms (SNPs) and copy number variations
- Identification of mutations responsible for impaired corneodesmosome function
- Analysis of genetic markers associated with skin barrier defects
- Assessment of inherited patterns through family genetic profiling
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Unexplained continuous skin peeling from birth or early childhood
- Generalized skin fragility and easy blistering
- Family history of peeling skin disorders
- Diagnostic uncertainty regarding chronic skin conditions
- Planning for family genetic counseling and risk assessment
- Persistent skin barrier dysfunction unresponsive to conventional treatments
Key Benefits of CDSN Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out peeling skin syndrome type 1 with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and inheritance risk assessment
- Early Intervention: Facilitates proactive management strategies before complications develop
- Peace of Mind: Reduces diagnostic uncertainty and provides clear answers about skin condition
- Research Contribution: Helps advance understanding of rare genetic skin disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates presence of pathogenic CDSN gene mutation, confirming diagnosis of peeling skin syndrome type 1
- Negative Result: Suggests absence of known CDSN mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if you carry one copy of mutated gene without showing symptoms
All results include detailed explanations and recommendations for next steps, including consultation with dermatology and genetics specialists.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving 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 facilities ensure consistent, high-quality testing standards nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your skin condition affect your quality of life. Our CDSN Gene Peeling Skin Syndrome Type 1 NGS Genetic DNA Test provides the answers you need for proper diagnosis and management. With results available in 3-4 weeks and multiple sample collection options (blood, extracted DNA, or blood spot on FTA card), getting tested has never been more convenient.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to help you understand your genetic health and provide the comprehensive care you deserve.
