XPA Gene Xeroderma Pigmentosum Group A NGS Genetic DNA Test
Comprehensive Genetic Testing for DNA Repair Disorders
The XPA Gene Xeroderma Pigmentosum Group A NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals at risk of xeroderma pigmentosum, a rare autosomal recessive disorder characterized by extreme sensitivity to ultraviolet (UV) radiation from sunlight. This advanced genetic analysis provides critical insights into DNA repair mechanisms and helps identify individuals with compromised cellular defense systems against environmental damage.
What Does This Test Measure?
This sophisticated genetic test specifically targets the XPA gene, which plays a vital role in the nucleotide excision repair (NER) pathway – the body’s primary defense mechanism against UV-induced DNA damage. The test utilizes next-generation sequencing (NGS) technology to:
- Detect mutations in the XPA gene that impair DNA repair capabilities
- Identify specific genetic variants associated with xeroderma pigmentosum type A
- Analyze the entire coding region and splice sites of the XPA gene
- Provide comprehensive mutation analysis for accurate diagnosis
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals exhibiting the following symptoms or risk factors:
- Severe sunburn reactions with minimal sun exposure
- Family history of xeroderma pigmentosum or related DNA repair disorders
- Early development of freckling and skin changes in sun-exposed areas
- Multiple skin cancers appearing before age 20
- Unexplained ocular abnormalities including photophobia or corneal damage
- Neurological symptoms that may accompany severe forms of the condition
- Children with extreme sun sensitivity and developmental concerns
Key Benefits of XPA Gene Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Early Diagnosis: Enables prompt intervention before severe complications develop
- Personalized Prevention: Guides customized sun protection strategies based on genetic risk
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Cancer Surveillance: Facilitates targeted monitoring for early skin cancer detection
- Treatment Guidance: Informs appropriate medical management and therapeutic approaches
- Peace of Mind: Offers clarity for families with unexplained sun sensitivity issues
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and dermatologists:
- Positive Result: Indicates the presence of pathogenic mutations in the XPA gene, confirming xeroderma pigmentosum diagnosis and guiding comprehensive management strategies
- Negative Result: Suggests no detectable mutations in the XPA gene, though other genetic causes of sun sensitivity may need consideration
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications, requiring ongoing monitoring and potential family studies
- Carrier Status: Reveals if an individual carries one copy of a mutated gene, important for family planning decisions
All results include detailed explanations and recommendations for next steps, with genetic counseling available to help you understand the implications for your health and family.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card |
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, San Jose, and many other cities. Our network of certified genetic testing facilities ensures accessible, reliable testing services for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about sun sensitivity and skin cancer risk affect your quality of life. Our XPA Gene Xeroderma Pigmentosum Group A NGS Genetic DNA Test provides the clarity and information you need to make informed healthcare decisions. With our special discounted price of $500 USD (regularly $700 USD), comprehensive genetic analysis has never been more accessible.
Ready to schedule your genetic test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Our specialists are available to answer your questions and guide you through the testing process with compassion and expertise.
