UVSSA Gene UV-Sensitive Syndrome Type 3 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Photosensitivity Disorders
The UVSSA Gene UV-Sensitive Syndrome Type 3 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic disorders characterized by extreme sensitivity to ultraviolet light. This advanced genetic test specifically targets mutations in the UVSSA gene, which plays a critical role in transcription-coupled nucleotide excision repair – the cellular mechanism that repairs DNA damage caused by UV radiation.
What Does This Test Measure?
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the entire UVSSA gene to identify:
- Pathogenic mutations causing UV-sensitive syndrome type 3
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations affecting gene function
- Novel genetic variants with potential clinical significance
The test provides complete sequencing coverage of the UVSSA gene, ensuring high sensitivity and specificity for detecting even rare genetic variations that contribute to photosensitivity disorders.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is particularly recommended for individuals presenting with:
- Extreme photosensitivity – severe skin reactions to minimal sun exposure
- Developmental delays in childhood or neurological abnormalities
- Characteristic facial features associated with Cockayne syndrome
- Family history of photosensitivity disorders or consanguineous parents
- Unexplained skin abnormalities that worsen with sun exposure
- Growth retardation or failure to thrive in infancy
- Progressive neurological deterioration without clear cause
Clinical Benefits of UVSSA Genetic Testing
Comprehensive Diagnostic Advantages
Undergoing the UVSSA Gene UV-Sensitive Syndrome Type 3 NGS Genetic DNA Test provides numerous clinical benefits:
- Accurate Diagnosis: Confirms or rules out UV-sensitive syndrome type 3 with high precision
- Personalized Management: Enables tailored sun protection strategies and medical care
- Genetic Counseling: Provides essential information for family planning decisions
- Early Intervention: Facilitates proactive management of potential complications
- Differential Diagnosis: Helps distinguish between similar photosensitivity disorders
- Research Contribution: Advances understanding of rare genetic conditions
Understanding Your Test Results
Interpretation Guidance
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identification of pathogenic UVSSA mutations confirms diagnosis of UV-sensitive syndrome type 3, requiring specialized dermatological and neurological care
- Negative Result: No disease-causing mutations detected, suggesting alternative diagnoses should be considered
- Variant of Uncertain Significance (VUS): Genetic changes with unclear clinical impact, requiring ongoing monitoring and family studies
- Carrier Status: Identification of individuals carrying one copy of mutated gene without disease symptoms
All results are accompanied by detailed clinical correlations and recommendations from our board-certified genetic specialists.
Test Pricing and Availability
| Test Component | Price (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
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Dermatology and Genetics
- Disease Focus: Osteology, Dermatology, Immunology Disorders
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history documenting photosensitivity symptoms
- Genetic counseling session to create detailed family pedigree
- Informed consent for genetic testing
- Insurance information or payment arrangement
Nationwide Availability
GGC DNA offers the UVSSA Gene UV-Sensitive Syndrome Type 3 NGS Genetic DNA Test at our state-of-the-art facilities across the United States. We have convenient 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 cities nationwide.
Take Control of Your Genetic Health Today
Don’t let unexplained photosensitivity or family history of genetic disorders remain a mystery. Our comprehensive UVSSA genetic testing provides the answers you need for proper diagnosis and management. With advanced NGS technology and expert genetic interpretation, you can make informed decisions about your health care.
Ready to schedule your genetic test? Call our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and receiving personalized medical guidance.
