ERCC2 Gene Xeroderma Pigmentosum Group D NGS Genetic DNA Test
Comprehensive Genetic Testing for Sun Sensitivity Disorders
The ERCC2 Gene Xeroderma Pigmentosum Group D NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals with extreme sensitivity to sunlight and increased skin cancer risk. This advanced test specifically analyzes the ERCC2 gene, which encodes a crucial DNA helicase enzyme essential for nucleotide excision repair (NER) – the body’s primary defense mechanism against UV-induced DNA damage.
What Does This Test Measure?
Our state-of-the-art NGS genetic testing platform comprehensively evaluates the ERCC2 gene for:
- Pathogenic mutations associated with Xeroderma Pigmentosum Group D
- Single nucleotide variants (SNVs) affecting DNA repair function
- Insertions and deletions that disrupt normal gene expression
- Splice site mutations impacting protein production
- Copy number variations affecting gene dosage
Who Should Consider This Test?
This genetic test is particularly recommended for individuals experiencing:
- Extreme sunburn reactions with minimal sun exposure
- Frequent development of freckles and sunspots in childhood
- History of multiple skin cancers at young ages
- Ocular sensitivity to light with conjunctival inflammation
- Family history of Xeroderma Pigmentosum or similar conditions
- Neurological symptoms including developmental delay or hearing loss
- Unexplained skin abnormalities in sun-exposed areas
Clinical Benefits of ERCC2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Early Risk Assessment: Identify genetic predisposition before severe symptoms develop
- Personalized Prevention: Create targeted sun protection strategies based on genetic risk
- Family Planning Guidance: Understand inheritance patterns for future generations
- Comprehensive Management: Coordinate care with dermatologists, ophthalmologists, and neurologists
- Psychological Relief: Reduce uncertainty through definitive diagnosis
- Research Contribution: Advance scientific understanding of DNA repair disorders
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your results:
- Positive Result: Confirms ERCC2 gene mutation and diagnosis of Xeroderma Pigmentosum Group D, enabling immediate implementation of protective measures
- Negative Result: Rules out ERCC2-related Xeroderma Pigmentosum, though other genetic causes may require investigation
- Variant of Uncertain Significance: Identifies genetic changes requiring further research and periodic re-evaluation
- Carrier Status: Determines if you carry one copy of the mutated gene without developing the condition
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
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 genetic counselors and healthcare professionals ensures accessible, high-quality care regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about sun sensitivity and skin cancer risk control your life. Our ERCC2 Gene Xeroderma Pigmentosum Group D NGS Genetic DNA Test provides the definitive answers you need to make informed healthcare decisions and implement effective prevention strategies.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions, discuss insurance coverage options, and guide you through the testing process with compassion and expertise.
Take the first step toward understanding your genetic health and protecting your future. Book your comprehensive genetic assessment now and gain the knowledge needed for proactive healthcare management.
