POLH Gene Xeroderma Pigmentosum Variant Type NGS Genetic DNA Test
Comprehensive Genetic Testing for Skin Cancer Predisposition
The POLH Gene Xeroderma Pigmentosum Variant Type NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals at risk of inherited skin disorders. This advanced genetic analysis specifically targets mutations in the POLH gene, which plays a critical role in DNA damage repair mechanisms following ultraviolet radiation exposure.
What is Xeroderma Pigmentosum?
Xeroderma Pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by extreme sensitivity to ultraviolet (UV) radiation from sunlight. The variant type, associated with POLH gene mutations, involves defects in the DNA polymerase eta enzyme, which is essential for accurate DNA replication following UV-induced damage.
What Does the Test Detect?
Our state-of-the-art NGS Genetic DNA Test identifies:
- Pathogenic variants in the POLH gene responsible for XP variant type
- Single nucleotide polymorphisms affecting DNA repair mechanisms
- Insertion/deletion mutations compromising polymerase function
- Copy number variations impacting gene expression
- Novel genetic variants with potential clinical significance
Advanced NGS Technology
Utilizing Next-Generation Sequencing technology, our test provides comprehensive coverage of the entire POLH gene coding region, including intron-exon boundaries and regulatory elements. This ensures maximum detection sensitivity for both known and novel mutations.
Who Should Consider This Test?
Clinical Indications and Symptoms
- Individuals with severe sun sensitivity and frequent sunburns
- Patients with early-onset skin cancers (before age 20)
- Family history of Xeroderma Pigmentosum or related disorders
- Unexplained neurological symptoms in sun-sensitive individuals
- Children with photophobia and ocular abnormalities
- Individuals with multiple pigmentation changes and freckling
- Those with delayed wound healing following sun exposure
High-Risk Populations
This test is particularly recommended for individuals from families with known XP cases, consanguineous relationships, or ethnic backgrounds with higher carrier frequencies.
Benefits of POLH Genetic Testing
Early Intervention and Prevention
- Enables proactive sun protection strategies from childhood
- Facilitates regular dermatological surveillance for early cancer detection
- Guides appropriate photoprotection measures and lifestyle modifications
- Supports informed family planning decisions and genetic counseling
Clinical Management Advantages
- Personalized treatment plans based on genetic risk profile
- Early implementation of neurological monitoring protocols
- Targeted cancer screening programs for at-risk individuals
- Comprehensive multidisciplinary care coordination
Understanding Your Test Results
Result Interpretation
Our comprehensive genetic report includes:
- Detailed analysis of identified POLH gene variants
- Clinical significance classification according to ACMG guidelines
- Correlation with established XP variant type phenotypes
- Inheritance pattern explanation and family risk assessment
- Recommendations for clinical management and surveillance
Genetic Counseling Support
All positive results include complimentary genetic counseling sessions to help patients and families understand the implications of their genetic status and make informed healthcare decisions.
Test Pricing and Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Details
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Specialty: Dermatology, Genetics
- Method: Next-Generation Sequencing (NGS) Technology
- Related Disorders: Osteology, Dermatology, Immunology Disorders
Pre-Test Requirements
Before scheduling your POLH Gene Xeroderma Pigmentosum test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential psychological impacts
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and dermatology specialists ensures comprehensive care regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your genetic risk for Xeroderma Pigmentosum affect your quality of life. Our POLH Gene NGS Genetic DNA Test provides the clarity you need to make informed health decisions and implement effective prevention strategies.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic test and consultation with our expert team.
Early detection through genetic testing can significantly improve outcomes and quality of life for individuals with Xeroderma Pigmentosum variant type. Take the first step toward personalized genetic healthcare today.
