CLDN1 Gene Ichthyosis Leukocyte Vacuoles Alopecia and Sclerosing Cholangitis NGS Genetic DNA Test
Comprehensive Genetic Analysis for Complex Multi-System Disorders
The CLDN1 Gene NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic conditions affecting multiple organ systems. This sophisticated genetic analysis specifically targets mutations in the CLDN1 gene, which encodes claudin-1, a crucial protein component of tight junctions that maintain cellular barrier integrity throughout the body.
What Does This Test Measure and Detect?
Our advanced Next-Generation Sequencing (NGS) technology comprehensively analyzes the entire CLDN1 gene to identify:
- Point mutations, insertions, and deletions in the CLDN1 gene
- Genetic variants affecting claudin-1 protein structure and function
- Mutations responsible for disrupting epidermal and hepatic tight junctions
- Pathogenic variants associated with the characteristic clinical triad
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with:
- Severe Ichthyosis: Persistent dry, scaly skin resembling fish scales
- Progressive Alopecia: Unexplained hair loss affecting scalp and body
- Hepatic Abnormalities: Symptoms of liver dysfunction or cholestasis
- Recurrent Infections: Due to compromised skin barrier function
- Family History: Known relatives with similar multi-system symptoms
- Undiagnosed Dermatological Conditions: With systemic manifestations
Clinical Benefits of CLDN1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out CLDN1-related disorders
- Personalized Treatment: Enables targeted therapeutic interventions
- Prognostic Information: Helps predict disease progression and complications
- Family Planning Guidance: Provides essential information for genetic counseling
- Early Intervention: Facilitates proactive management of liver complications
- Differential Diagnosis: Distinguishes from other ichthyosis syndromes
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identifies pathogenic CLDN1 mutation confirming diagnosis
- Negative Result: No mutation detected, suggesting alternative diagnoses
- Variant of Uncertain Significance: Requires additional family studies
- Carrier Status: Identifies individuals with single mutation copies
All results are accompanied by detailed clinical correlation and management recommendations from our board-certified genetic specialists.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Accessibility
We proudly serve patients across 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, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Ready to take control of your genetic health? Book your CLDN1 Gene Test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or schedule your appointment online. Our expert genetic counselors are available to discuss your testing options and provide comprehensive pre-test counseling.
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Dermatology and Genetics
- Disease Focus: Osteology, Dermatology, Immunology Disorders
Our CLDN1 Gene NGS Genetic DNA Test represents the gold standard in genetic diagnostics for complex multi-system disorders, providing patients and healthcare providers with the critical information needed for accurate diagnosis and effective management strategies.
