ERCC4 Gene Xeroderma Pigmentosum Group F NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Skin Disorder
The ERCC4 Gene Xeroderma Pigmentosum Group F NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals at risk of Xeroderma Pigmentosum (XP), a rare autosomal recessive disorder that severely compromises the body’s ability to repair DNA damage caused by ultraviolet (UV) radiation. This sophisticated genetic analysis specifically targets mutations in the ERCC4 gene, which plays a critical role in the nucleotide excision repair pathway – the body’s primary defense mechanism against UV-induced DNA damage.
What Does This Test Measure?
This advanced next-generation sequencing (NGS) test comprehensively analyzes the ERCC4 gene to identify pathogenic variants that cause Xeroderma Pigmentosum Group F. The test specifically detects:
- Point mutations, insertions, and deletions in the ERCC4 gene
- Variants affecting the DNA repair mechanism
- Genetic markers associated with extreme UV sensitivity
- Inheritance patterns for autosomal recessive conditions
- Risk factors for developing multiple skin cancers
Who Should Consider This Test?
This genetic test is particularly recommended for individuals exhibiting the following symptoms or risk factors:
- Severe sunburn reactions with minimal sun exposure
- Extensive freckling in sun-exposed areas during childhood
- Development of skin cancers at unusually young ages
- Family history of Xeroderma Pigmentosum or similar conditions
- Ocular abnormalities including photophobia and keratitis
- Neurological symptoms in some XP variants
- Premature skin aging in sun-exposed areas
- Multiple actinic keratoses or basal cell carcinomas
Clinical Benefits of ERCC4 Genetic Testing
Undergoing the ERCC4 Gene Xeroderma Pigmentosum Group F NGS Genetic DNA Test provides numerous clinical advantages:
- Early Risk Identification: Detect genetic predisposition before severe symptoms manifest
- Personalized Prevention Strategies: Develop customized sun protection protocols
- Family Planning Guidance: Understand inheritance risks for future generations
- Targeted Monitoring: Implement appropriate dermatological surveillance schedules
- Treatment Planning: Guide therapeutic decisions and interventions
- Psychological Relief: Provide clarity and reduce uncertainty about symptoms
Understanding Your Test Results
Your ERCC4 genetic test results will fall into one of several categories, each with specific implications:
- Positive Result: Indicates the presence of pathogenic ERCC4 mutations, confirming Xeroderma Pigmentosum Group F diagnosis and necessitating strict sun protection measures and regular dermatological monitoring
- Negative Result: Suggests no detected ERCC4 mutations, though other genetic or environmental factors may still contribute to symptoms
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is currently unknown, requiring ongoing research and possibly additional testing
- Carrier Status: Reveals if an individual carries one copy of a mutated ERCC4 gene, important for family planning decisions
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ERCC4 Gene Xeroderma Pigmentosum Group F NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before undergoing the ERCC4 genetic test, patients should complete the following:
- Provide comprehensive clinical history related to Xeroderma Pigmentosum symptoms
- Participate in genetic counseling session to understand test implications
- Complete family pedigree chart documenting affected family members
- Discuss potential outcomes and management strategies with healthcare provider
Nationwide Testing Availability
We proudly offer the ERCC4 Gene Xeroderma Pigmentosum Group F NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories and collection centers are conveniently located in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your genetic risk for Xeroderma Pigmentosum affect your quality of life. Our comprehensive ERCC4 genetic testing provides the clarity you need to make informed decisions about your health and implement effective prevention strategies. Early detection through genetic testing can significantly improve outcomes and quality of life for individuals with Xeroderma Pigmentosum.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic risk and protecting your skin health for years to come.
