TRPV3 Gene Olmsted Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Skin Disorders
The TRPV3 Gene Olmsted Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare dermatological conditions. This advanced molecular analysis specifically targets the TRPV3 (Transient Receptor Potential Vanilloid 3) gene, which plays a crucial role in skin barrier function, thermosensation, and hair follicle development. Mutations in this gene are directly linked to Olmsted syndrome, a rare congenital disorder characterized by progressive palmoplantar keratoderma and periorificial hyperkeratosis.
What Does This Test Measure?
Our comprehensive NGS-based genetic test precisely identifies pathogenic variants in the TRPV3 gene, including:
- Point mutations and single nucleotide variants
- Insertions and deletions affecting gene function
- Missense mutations altering protein structure
- Frameshift mutations disrupting normal gene expression
- Regulatory region variants affecting gene expression
The test utilizes cutting-edge Next-Generation Sequencing technology to provide complete coverage of the TRPV3 gene coding regions, splice sites, and regulatory elements, ensuring comprehensive mutation detection with exceptional accuracy.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of Olmsted syndrome or related TRPV3-associated disorders:
- Severe Palmoplantar Keratoderma: Progressive thickening of skin on palms and soles
- Periorificial Lesions: Keratotic plaques around mouth, nose, eyes, and anus
- Alopecia: Progressive hair loss affecting scalp and body
- Nail Dystrophy: Abnormal nail growth and development
- Contractures: Joint limitations and digital constrictions
- Family History: Individuals with relatives diagnosed with similar skin conditions
Clinical Benefits of Genetic Testing
Undergoing TRPV3 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirm or rule out Olmsted syndrome with molecular precision
- Personalized Treatment: Guide therapeutic decisions based on specific mutation type
- Genetic Counseling: Provide accurate recurrence risk assessment for family planning
- Early Intervention: Enable proactive management of symptoms and complications
- Differential Diagnosis: Distinguish from other palmoplantar keratoderma syndromes
- Research Contribution: Contribute to scientific understanding of TRPV3-related disorders
Understanding Your Test Results
Your genetic test report will provide comprehensive information about your TRPV3 gene status:
- Positive Result: Identifies a pathogenic mutation confirming Olmsted syndrome diagnosis
- Negative Result: No disease-causing mutation detected, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical interpretation
- Carrier Status: Identifies individuals carrying one copy of mutated gene
All results are accompanied by detailed interpretation from our certified genetic counselors, who provide personalized guidance on next steps, treatment options, and family implications.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Technology: Next-Generation Sequencing (NGS)
- Specialty: Dermatology and Genetics
- Pre-test Requirements: Clinical History and Genetic Counseling Session
Nationwide Testing Availability
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, and many more. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your skin condition affect your quality of life. Our TRPV3 Gene Olmsted Syndrome NGS Genetic DNA Test provides the clarity you need for proper diagnosis and treatment planning. With our discounted price of only $500 and comprehensive genetic counseling included, there’s never been a better time to understand your genetic health.
Call or WhatsApp 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 navigate your diagnostic journey with compassion and expertise.
