ERCC4 Gene XFE Progeroid Syndrome NGS Genetic DNA Test
Understanding ERCC4 Gene XFE Progeroid Syndrome
The ERCC4 Gene XFE Progeroid Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare premature aging disorders. XFE progeroid syndrome is an extremely rare autosomal recessive condition characterized by accelerated aging features that typically manifest in early childhood. This comprehensive genetic analysis utilizes advanced Next-Generation Sequencing technology to identify mutations in the ERCC4 gene, which plays a crucial role in DNA repair mechanisms and cellular maintenance.
What Does This Test Measure?
This sophisticated genetic test specifically targets and analyzes the ERCC4 gene for pathogenic variants associated with XFE progeroid syndrome. The test examines:
- Complete sequencing of the ERCC4 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of splice site variants affecting gene function
- Assessment of DNA repair capacity impairment
- Evaluation of genetic markers linked to premature aging phenotypes
Who Should Consider This Genetic Test?
This test is recommended for individuals displaying symptoms suggestive of premature aging disorders, including:
- Children or adults with accelerated aging features
- Individuals with unexplained skin abnormalities and photosensitivity
- Patients with skeletal abnormalities and growth retardation
- Those with immune system deficiencies and recurrent infections
- Individuals with family history of premature aging conditions
- Patients with neurological symptoms and developmental delays
Clinical Symptoms and Indications
Common clinical presentations that warrant consideration of this test include:
- Premature skin aging and increased sun sensitivity
- Skeletal abnormalities including osteoporosis and joint stiffness
- Growth retardation and failure to thrive in childhood
- Immune system dysfunction and increased infection susceptibility
- Cognitive impairment and neurological symptoms
- Hearing loss and vision problems
Benefits of ERCC4 Genetic Testing
Undergoing the ERCC4 Gene XFE Progeroid Syndrome NGS Genetic DNA Test provides numerous advantages:
- Early Diagnosis: Enables prompt identification of the condition before severe symptoms develop
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Symptom Management: Helps implement preventive measures for associated complications
- Research Contribution: Advances understanding of rare genetic aging disorders
Test Specifications and Requirements
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Methodology: Next-Generation Sequencing (NGS) Technology
Specialties Involved: Dermatology, Genetics, Immunology, Osteology
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of genetic specialists:
- Positive Result: Indicates the presence of pathogenic ERCC4 gene mutations associated with XFE progeroid syndrome. This confirms the diagnosis and enables targeted management strategies.
- Negative Result: Suggests no detectable mutations in the ERCC4 gene, though clinical correlation with symptoms is essential.
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or research to determine clinical significance.
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history relevant to premature aging symptoms
- Participation in genetic counseling session
- Detailed pedigree chart of family members affected by similar conditions
- Documentation of previous diagnostic evaluations
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure accurate and reliable results for patients nationwide.
Take Control of Your Genetic Health Today
Don’t wait to understand your genetic predisposition to premature aging disorders. Our expert team of genetic counselors and medical specialists are ready to guide you through the testing process and help interpret your results. Early detection through the ERCC4 Gene XFE Progeroid Syndrome NGS Genetic DNA Test can make a significant difference in managing symptoms and improving quality of life.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take the first step toward understanding your genetic health and accessing personalized care.
