ERCC4 Gene Fanconi Anemia Complementation Group Q NGS Genetic DNA Test
Comprehensive Genetic Testing for Fanconi Anemia Type Q
The ERCC4 Gene Fanconi Anemia Complementation Group Q NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying individuals at risk for Fanconi anemia complementation group Q, a rare inherited disorder characterized by bone marrow failure, congenital abnormalities, and increased cancer susceptibility. This specialized genetic test provides crucial insights for early intervention and personalized medical management.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based test specifically targets the ERCC4 gene, which plays a critical role in DNA repair mechanisms. The test identifies:
- Pathogenic variants in the ERCC4 gene associated with Fanconi anemia
- Single nucleotide polymorphisms (SNPs) affecting DNA repair function
- Insertion and deletion mutations compromising genetic stability
- Compound heterozygous mutations contributing to disease manifestation
- Novel genetic variants with potential clinical significance
Who Should Consider ERCC4 Genetic Testing
This specialized genetic test is recommended for individuals presenting with:
- Unexplained bone marrow failure or aplastic anemia
- Characteristic physical features including short stature, skin hyperpigmentation, and thumb abnormalities
- Family history of Fanconi anemia or consanguineous parentage
- Multiple congenital anomalies affecting skeletal, renal, or cardiac systems
- Increased sensitivity to DNA-damaging agents or radiation
- Early-onset hematological malignancies or solid tumors
- Developmental delays with associated physical abnormalities
Significant Benefits of Early Genetic Detection
Undergoing ERCC4 genetic testing provides numerous advantages for patients and families:
- Early Intervention Opportunities: Enables proactive monitoring for bone marrow failure and cancer development
- Personalized Treatment Planning: Guides appropriate hematopoietic stem cell transplantation decisions
- Informed Family Planning: Provides crucial information for reproductive decision-making
- Comprehensive Medical Management: Facilitates multidisciplinary care coordination
- Genetic Counseling Support: Offers family-specific risk assessment and management strategies
- Research Contribution: Advances understanding of Fanconi anemia pathophysiology
Understanding Your Genetic Test Results
Our comprehensive genetic report provides detailed interpretation of your ERCC4 gene analysis:
- Positive Result: Indicates presence of pathogenic ERCC4 mutations confirming Fanconi anemia diagnosis, requiring immediate hematological evaluation and genetic counseling
- Negative Result: Suggests absence of detectable ERCC4 mutations, though does not completely exclude Fanconi anemia due to genetic heterogeneity
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact, necessitating family studies and periodic re-evaluation
- Carrier Status: Detects individuals with single ERCC4 mutations who may transmit the condition to offspring
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with specialized genetic centers in:
- New York City, NY – Advanced Pediatric Genetics Center
- Los Angeles, CA – Comprehensive Dysmorphology Clinic
- Chicago, IL – Midwest Genetic Testing Hub
- Houston, TX – Texas Children’s Genetic Institute
- Phoenix, AZ – Southwest Genetic Diagnostics
- Philadelphia, PA – East Coast Genetic Medicine Center
Our network ensures accessible genetic testing services for patients throughout the country, with coordinated care between local providers and our specialized genetic team.
Take Control of Your Genetic Health Today
Early genetic testing for Fanconi anemia can significantly impact treatment outcomes and quality of life. Our expert genetic counselors and pediatric specialists are ready to guide you through the testing process and provide comprehensive post-test support.
Schedule your ERCC4 genetic test consultation today by calling our dedicated genetic testing line at +1(267) 388-9828 or book your appointment online through our secure patient portal.
Don’t wait to gain crucial insights into your genetic health. Our team is committed to providing accurate, timely genetic testing with compassionate patient care and comprehensive genetic counseling support.
