FANCI Gene Fanconi Anemia Type I NGS Genetic DNA Test
Comprehensive Genetic Analysis for Fanconi Anemia Diagnosis
The FANCI Gene Fanconi Anemia Type I NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals and families affected by Fanconi anemia. This sophisticated next-generation sequencing (NGS) test specifically targets the FANCI gene, which plays a critical role in the Fanconi anemia DNA repair pathway. When mutations occur in this gene, they disrupt the body’s ability to repair DNA damage, leading to the characteristic symptoms of Fanconi anemia type I.
Fanconi anemia is a rare inherited disorder that primarily affects bone marrow function, resulting in decreased production of all types of blood cells. The condition also increases susceptibility to various cancers and may cause physical abnormalities. Early and accurate diagnosis through genetic testing is essential for proper medical management, treatment planning, and family counseling.
What the Test Measures and Detects
Our advanced NGS technology provides comprehensive analysis of the FANCI gene to identify:
- Pathogenic mutations in the FANCI gene associated with Fanconi anemia type I
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations (CNVs) that may affect gene function
- Novel genetic variants with potential clinical significance
- Carrier status for individuals with family history of Fanconi anemia
The test utilizes state-of-the-art next-generation sequencing technology to examine the entire coding region and critical intronic regions of the FANCI gene. This comprehensive approach ensures high detection rates for various mutation types, providing clinicians with reliable genetic information for diagnosis and management decisions.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Unexplained bone marrow failure or aplastic anemia
- Physical abnormalities commonly associated with Fanconi anemia (short stature, skin pigmentation changes, thumb/arm abnormalities)
- Family history of Fanconi anemia or known FANCI gene mutations
- Increased chromosomal breakage in response to DNA cross-linking agents
- Children with developmental delays and congenital malformations
- Couples planning pregnancy with family history of Fanconi anemia
- Individuals with increased cancer risk, particularly leukemia and solid tumors
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history including symptoms and physical findings
- Detailed family medical history with pedigree chart
- Genetic counseling session to discuss test implications and potential outcomes
- Informed consent for genetic testing
Benefits of Taking the FANCI Gene Test
Undergoing genetic testing for Fanconi anemia type I provides numerous clinical and personal benefits:
- Accurate Diagnosis: Confirms or rules out Fanconi anemia type I with high precision
- Early Intervention: Enables proactive medical management before severe complications develop
- Family Planning: Provides crucial information for reproductive decisions and prenatal testing options
- Personalized Treatment: Guides appropriate therapeutic approaches based on genetic findings
- Cancer Surveillance: Identifies individuals who require enhanced cancer screening protocols
- Genetic Counseling: Supports informed decision-making for patients and family members
- Research Contribution: Advances understanding of Fanconi anemia and related disorders
Understanding Your Test Results
Interpretation Guidelines
Test results are carefully interpreted by our team of board-certified geneticists and molecular pathologists. Your report will include:
- Positive Result: Indicates the presence of pathogenic mutations in the FANCI gene, confirming Fanconi anemia type I diagnosis
- Negative Result: Suggests no detectable mutations in the FANCI gene, though does not completely rule out other genetic causes
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if an individual carries one copy of a mutated FANCI gene
Clinical Implications
Positive results typically lead to:
- Regular monitoring of blood counts and bone marrow function
- Implementation of cancer surveillance protocols
- Consideration of hematopoietic stem cell transplantation
- Androgen therapy for bone marrow failure management
- Genetic counseling for family members
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| FANCI Gene Fanconi Anemia Type I NGS Genetic DNA Test | $500 USD | $700 USD |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Genetics
- Department: Genetic Testing Laboratory
Nationwide Availability
We have branches across the United States, serving patients in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and healthcare professionals ensures accessible, high-quality genetic testing services nationwide.
Book Your Genetic Test Today
Take the first step toward understanding your genetic health. Our experienced team is ready to guide you through the testing process and provide comprehensive support. Contact us today to schedule your FANCI Gene Fanconi Anemia Type I NGS Genetic DNA Test.
Call or WhatsApp: +1(267) 388-9828
Don’t wait to get the answers you need for better health management and peace of mind. Our genetic testing services provide reliable results with professional interpretation and ongoing support throughout your healthcare journey.
