ERCC4 Gene Fanconi Anemia Complementation Group Q NGS Genetic DNA Test
Comprehensive Genetic Analysis for Fanconi Anemia
The ERCC4 Gene Fanconi Anemia Complementation Group Q NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for inherited bone marrow failure syndromes. This advanced next-generation sequencing test specifically targets the ERCC4 gene, which plays a critical role in DNA repair mechanisms and cellular protection against genetic damage. When mutations occur in this vital gene, individuals become susceptible to Fanconi anemia complementation group Q, a rare autosomal recessive disorder characterized by progressive bone marrow failure, congenital abnormalities, and increased cancer risk.
What This Test Measures and Detects
Our sophisticated NGS technology comprehensively analyzes the entire ERCC4 gene to identify:
- Pathogenic mutations and variants in the ERCC4 gene sequence
- Single nucleotide polymorphisms (SNPs) associated with Fanconi anemia
- Insertions, deletions, and copy number variations affecting gene function
- Compound heterozygous mutations that may cause disease manifestation
- Carrier status for autosomal recessive inheritance patterns
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Unexplained bone marrow failure or progressive cytopenias
- Congenital physical abnormalities including skeletal malformations
- Short stature, microcephaly, or developmental delays
- Hyperpigmentation or café-au-lait spots on the skin
- Family history of Fanconi anemia or consanguineous parentage
- Increased chromosomal breakage in previous testing
- Early-onset hematological malignancies or solid tumors
- Reproductive difficulties or infertility concerns
Significant Benefits of ERCC4 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Fanconi anemia complementation group Q with precision
- Personalized Treatment: Guides hematopoietic stem cell transplantation decisions and androgen therapy
- Cancer Surveillance: Enables proactive monitoring for leukemia and solid tumor development
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of DNA repair disorders and therapeutic development
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation and clinical guidance:
- Positive Result: Identifies pathogenic mutations confirming Fanconi anemia diagnosis, requiring immediate hematology and oncology consultation
- Carrier Status: Indicates single mutation copy with no disease symptoms but important for family planning considerations
- Negative Result: No ERCC4 mutations detected, suggesting alternative causes for clinical presentation
- Variant of Uncertain Significance: Requires additional family studies and periodic re-evaluation as research advances
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We proudly offer comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of testing location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your health decisions. Our expert team of genetic counselors and medical professionals is ready to guide you through the testing process and provide comprehensive support. With rapid turnaround times of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or simple blood spot cards, getting the answers you need has never been more accessible.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session and book the ERCC4 Gene Fanconi Anemia Complementation Group Q NGS Genetic DNA Test. Take the first step toward understanding your genetic health and making informed medical decisions for yourself and your family.
