FANCE Gene Fanconi Anemia Type E NGS Genetic DNA Test
Comprehensive Genetic Testing for Fanconi Anemia Type E
The FANCE Gene Fanconi Anemia Type E NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the FANCE gene, which plays a critical role in the DNA repair pathway. Fanconi anemia type E is a rare inherited disorder characterized by progressive bone marrow failure, congenital abnormalities, and increased susceptibility to various cancers. This comprehensive genetic analysis provides crucial insights for accurate diagnosis, treatment planning, and family risk assessment.
What Does the FANCE Gene Test Measure?
This advanced genetic test specifically targets the FANCE gene using next-generation sequencing (NGS) technology to identify:
- Pathogenic mutations in the FANCE gene coding regions
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations affecting the FANCE gene
- Genetic variants that disrupt the Fanconi anemia DNA repair pathway
Who Should Consider This Test?
The FANCE Gene Fanconi Anemia Type E test is recommended for individuals presenting with:
- Unexplained bone marrow failure or aplastic anemia
- Family history of Fanconi anemia or consanguineous parents
- Characteristic physical features including short stature, skin pigmentation abnormalities, and thumb/arm anomalies
- Developmental delays or congenital malformations
- Increased cancer risk, particularly acute myeloid leukemia
- Couples with family history planning pregnancy
Key Benefits of FANCE Gene Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of Fanconi anemia type E
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Treatment Guidance: Helps direct appropriate medical management and surveillance protocols
- Cancer Risk Assessment: Identifies individuals requiring enhanced cancer screening
- Genetic Counseling: Supports comprehensive family risk evaluation and education
Understanding Your Test Results
Your FANCE Gene Fanconi Anemia Type E test results will be carefully interpreted by our genetic specialists:
- Positive Result: Indicates the presence of pathogenic FANCE gene mutations confirming Fanconi anemia type E diagnosis
- Negative Result: Suggests no detectable FANCE gene mutations, though does not completely rule out other forms of Fanconi anemia
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if you carry one copy of a mutated FANCE gene
Test Details and Pricing
| Test Name | FANCE Gene Fanconi Anemia Type E 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 |
Pre-Test Requirements
Before undergoing the FANCE Gene Fanconi Anemia Type E test, patients should:
- Provide complete clinical history and symptoms
- Participate in genetic counseling session
- Complete family pedigree chart documenting affected relatives
- Discuss testing implications with healthcare provider
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services nationwide.
Take Action Today
Don’t wait to get the answers you need about Fanconi anemia type E. Early diagnosis through FANCE gene testing can significantly impact treatment outcomes and family planning decisions. Our experienced genetic counselors are available to discuss your testing options and provide comprehensive support throughout the process.
Book your FANCE Gene Fanconi Anemia Type E NGS Genetic DNA Test today by calling our dedicated genetic testing hotline at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic health and making informed medical decisions.
