ERCC5 Gene Xeroderma Pigmentosum Group G NGS Genetic DNA Test
Understanding ERCC5 Gene Testing and Its Critical Importance
The ERCC5 Gene Xeroderma Pigmentosum Group G NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals at risk of inherited skin disorders. Xeroderma Pigmentosum (XP) is a rare autosomal recessive genetic condition characterized by extreme sensitivity to ultraviolet (UV) radiation from sunlight, leading to a 10,000-fold increased risk of developing skin cancers. The ERCC5 gene, also known as XPG, plays a crucial role in the nucleotide excision repair pathway, which is essential for repairing DNA damage caused by UV radiation.
This comprehensive genetic test utilizes Next-Generation Sequencing (NGS) technology to analyze the entire ERCC5 gene with exceptional accuracy and precision. Early detection through genetic testing can significantly impact clinical outcomes by enabling proactive management strategies and preventive measures that can dramatically reduce cancer risk and improve quality of life for affected individuals.
What the ERCC5 Gene Test Measures and Detects
The ERCC5 Gene Xeroderma Pigmentosum Group G NGS Genetic DNA Test specifically identifies:
- Pathogenic mutations in the ERCC5 gene associated with Xeroderma Pigmentosum Group G
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Copy number variations (CNVs) affecting the ERCC5 gene
- Compound heterozygous or homozygous mutations
- Novel variants of uncertain significance with comprehensive interpretation
The test examines all coding regions and flanking intronic sequences of the ERCC5 gene, ensuring comprehensive coverage of potential mutation sites. Our advanced NGS platform provides >99% sensitivity for variant detection, making it the gold standard for genetic diagnosis of Xeroderma Pigmentosum Group G.
Who Should Consider ERCC5 Genetic Testing
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Extreme sun sensitivity and severe sunburn reactions
- Multiple skin cancers at an early age
- Family history of Xeroderma Pigmentosum or related disorders
- Progressive freckling and pigmentary changes in sun-exposed areas
- Ocular abnormalities including photophobia and keratitis
- Neurological symptoms in some XP variants
- Unexplained skin lesions in childhood
- Consanguineous parentage with skin cancer history
At-Risk Populations
- Children with suspected XP based on clinical presentation
- Individuals with family history of XP Group G
- Couples planning pregnancy with known XP carrier status
- Patients with unexplained multiple skin malignancies
- Individuals from populations with higher carrier frequencies
Benefits of ERCC5 Genetic DNA Testing
Undergoing ERCC5 genetic testing provides numerous significant advantages:
- Early Diagnosis: Enables prompt intervention before severe complications develop
- Personalized Prevention: Tailored sun protection strategies based on genetic risk
- Family Planning: Provides crucial information for reproductive decisions
- Cancer Risk Reduction: Implementation of rigorous surveillance protocols
- Psychological Relief: Reduces uncertainty and anxiety through definitive diagnosis
- Clinical Management: Guides appropriate dermatological and ophthalmological care
- Genetic Counseling: Supports informed decision-making for entire families
Understanding Your Test Results
Possible Result Interpretations
Your ERCC5 genetic test results will fall into one of several categories:
Positive Result
Identification of two pathogenic mutations confirms the diagnosis of Xeroderma Pigmentosum Group G. This result necessitates immediate implementation of comprehensive sun protection measures, regular dermatological surveillance, and genetic counseling for family members.
Carrier Status
Detection of a single pathogenic mutation indicates carrier status. While carriers typically don’t develop XP symptoms, they have a 50% chance of passing the mutation to their children. Genetic counseling is recommended for reproductive planning.
Negative Result
No pathogenic mutations detected significantly reduces the likelihood of Xeroderma Pigmentosum Group G, though other genetic forms of XP or different conditions should be considered if clinical symptoms persist.
Variant of Uncertain Significance (VUS)
Identification of genetic changes with unknown clinical significance requires careful interpretation in the context of clinical findings and may warrant family studies for clarification.
Post-Test Recommendations
- Comprehensive genetic counseling session to discuss results
- Development of personalized management plan with dermatologist
- Regular skin cancer screening protocols
- Family testing recommendations
- Lifestyle modifications and sun protection education
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | ERCC5 Gene Xeroderma Pigmentosum Group G 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 |
| Specialty | Dermatology, Genetics |
Pre-Test Requirements and Preparation
Before undergoing the ERCC5 genetic test, patients should provide:
- Complete clinical history documenting symptoms and family background
- Participation in genetic counseling session to create detailed family pedigree
- Informed consent understanding test implications and potential outcomes
- Insurance information and payment arrangements
Nationwide Availability and Booking Information
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, San Jose, and many other cities. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take the first step toward understanding your genetic risk for Xeroderma Pigmentosum Group G. Our compassionate team of genetic counselors and dermatology specialists are ready to guide you through the testing process and help you make informed decisions about your health.
Book Your ERCC5 Genetic Test Today
Don’t wait to get the answers you need about your genetic health. Contact us now to schedule your ERCC5 Gene Xeroderma Pigmentosum Group G NGS Genetic DNA Test:
Call or WhatsApp: +1(267) 388-9828
Our genetic specialists are available to answer your questions, discuss insurance coverage options, and help you understand how genetic testing can benefit you and your family. Early detection through genetic testing can be life-saving for individuals at risk of Xeroderma Pigmentosum Group G.
Take control of your genetic health today. Book your comprehensive ERCC5 genetic analysis and gain the knowledge needed to implement effective prevention strategies and improve your long-term health outcomes.
