FANCD2 Gene Fanconi Anemia Type D2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Fanconi Anemia Diagnosis
The FANCD2 Gene Fanconi Anemia Type D2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with Fanconi anemia type D2. This rare inherited disorder affects the body’s ability to repair DNA damage and can lead to serious health complications including bone marrow failure, congenital abnormalities, and increased cancer risk. Our advanced testing methodology provides comprehensive analysis of the FANCD2 gene, enabling accurate diagnosis and personalized treatment planning.
What Does This Test Measure?
This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to examine the FANCD2 gene for mutations that cause Fanconi anemia type D2. The test specifically detects:
- Point mutations in the FANCD2 gene coding regions
- Small insertions and deletions affecting gene function
- Copy number variations and structural abnormalities
- Pathogenic variants disrupting DNA repair mechanisms
- Inheritance patterns for genetic counseling purposes
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms or risk factors associated with Fanconi anemia, including:
- Children or adults with unexplained bone marrow failure
- Individuals with congenital abnormalities such as thumb or radial anomalies
- Patients with short stature, skin hyperpigmentation, or microcephaly
- Those with family history of Fanconi anemia or consanguineous parents
- Individuals with increased chromosomal breakage in laboratory testing
- Patients with early-onset cancers, particularly head and neck squamous cell carcinoma
- Couples planning pregnancy with known family history of Fanconi anemia
Key Benefits of FANCD2 Genetic Testing
Undergoing the FANCD2 Gene Fanconi Anemia Type D2 NGS Genetic DNA Test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive identification of FANCD2 gene mutations
- Early Intervention: Enables proactive management of potential complications
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic findings
- Risk Assessment: Helps identify at-risk family members through cascade testing
- Comprehensive Analysis: Utilizes advanced NGS technology for thorough genetic evaluation
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your FANCD2 gene test results:
- Positive Result: Indicates the presence of pathogenic mutations in the FANCD2 gene, confirming Fanconi anemia type D2 diagnosis
- Negative Result: Suggests no detectable mutations in the FANCD2 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms
All results include detailed genetic counseling to help you understand the implications and next steps for management and family planning.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | FANCD2 Gene Fanconi Anemia Type D2 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Genetics |
| Disease Category | Metabolic Disorders |
Pre-Test Requirements
Before undergoing the FANCD2 genetic test, patients should provide:
- Complete clinical history including symptoms and physical findings
- Family medical history with details of affected relatives
- Participation in genetic counseling session to create detailed pedigree chart
- Informed consent for genetic testing and result disclosure
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, and San Jose. Our network of certified genetic counselors and medical professionals ensures you receive comprehensive care regardless of your location.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about Fanconi anemia risk. Our FANCD2 Gene Fanconi Anemia Type D2 NGS Genetic DNA Test provides the comprehensive genetic analysis required for accurate diagnosis and informed medical decisions. With our discounted price of $500 USD, advanced NGS technology, and nationwide availability, there’s never been a better time to prioritize your genetic health.
Call +1(267) 388-9828 now to schedule your genetic counseling session and book your FANCD2 genetic test. Our genetic specialists are available to answer your questions and guide you through the testing process with compassion and expertise.
