ERCC6 Gene UV-Sensitive Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for DNA Repair Disorders
The ERCC6 Gene UV-Sensitive Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic disorders affecting DNA repair mechanisms. This sophisticated test utilizes next-generation sequencing technology to identify mutations in the ERCC6 gene, which plays a critical role in nucleotide excision repair pathways. When this gene malfunctions, it leads to Cockayne syndrome type B, characterized by extreme sensitivity to ultraviolet light, progressive neurological deterioration, and premature aging symptoms.
What Does This Test Measure?
This advanced genetic test specifically targets and analyzes the ERCC6 gene located on chromosome 10q11.23. The test detects:
- Point mutations, deletions, and insertions in the ERCC6 gene
- Pathogenic variants affecting DNA repair capabilities
- Genetic markers associated with nucleotide excision repair deficiency
- Inheritance patterns for autosomal recessive conditions
- Specific mutations linked to UV-sensitive syndrome manifestations
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following symptoms or clinical indications:
Clinical Symptoms and Indications
- Extreme sensitivity to sunlight with severe sunburn reactions
- Progressive neurological abnormalities including developmental delays
- Characteristic facial features: sunken eyes, thin nose, large ears
- Growth failure and microcephaly (small head size)
- Premature aging appearance and joint contractures
- Hearing loss and vision problems including cataracts
- Family history of similar dermatological or neurological conditions
- Unexplained photosensitivity disorders unresponsive to conventional treatments
Benefits of ERCC6 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
Diagnostic and Clinical Benefits
- Accurate Diagnosis: Provides definitive diagnosis for complex cases of photosensitivity
- Early Intervention: Enables proactive management before severe symptoms develop
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides development of customized treatment and prevention strategies
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of DNA repair disorders and potential therapies
Understanding Your Test Results
Our comprehensive genetic report provides detailed analysis and interpretation of your ERCC6 gene sequencing results:
Result Interpretation Guidelines
- Positive Result: Indicates presence of pathogenic ERCC6 mutations confirming diagnosis of Cockayne syndrome type B
- Negative Result: No disease-causing mutations detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Genetic changes identified requiring further clinical evaluation
- Carrier Status: Identification of individuals carrying one copy of mutated gene without disease symptoms
All results are accompanied by detailed clinical interpretation and recommendations for follow-up care. Our genetic counselors are available to help you understand your results and discuss next steps.
Test Pricing and Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Details
- Turnaround Time: 3 to 4 weeks
- Sample Types: Blood, Extracted DNA, or One drop Blood on FTA Card
- Pre-test Requirements: Clinical history and genetic counseling session
- Specialty: Dermatology, Genetics
- Methodology: Next-Generation Sequencing (NGS) Technology
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality testing regardless of location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. The ERCC6 Gene UV-Sensitive Syndrome Type 1 NGS Genetic DNA Test provides the clarity needed for informed healthcare decisions. Our team of genetic specialists and dermatologists are ready to support you through every step of the testing process.
Ready to schedule your test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health with confidence and precision.
