CFI Gene Hemolytic Uremic Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Atypical Hemolytic Uremic Syndrome
The CFI Gene Hemolytic Uremic Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for patients with suspected atypical hemolytic uremic syndrome (aHUS). This sophisticated genetic test utilizes next-generation sequencing technology to identify mutations in the CFI (Complement Factor I) gene, which plays a critical role in regulating the complement system – an essential component of our immune defense mechanism.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets and analyzes the CFI gene to identify pathogenic variants that disrupt normal complement regulation. The test detects:
- Point mutations in the CFI gene coding regions
- Small insertions and deletions affecting gene function
- Copy number variations that may impact gene expression
- Regulatory region mutations affecting complement factor I production
The CFI protein is essential for controlling the alternative complement pathway, and mutations can lead to uncontrolled complement activation, resulting in damage to blood vessel walls and the characteristic triad of aHUS: microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Unexplained acute kidney failure requiring dialysis
- Recurrent episodes of hemolytic anemia with fragmented red blood cells
- Persistent thrombocytopenia without clear cause
- Family history of hemolytic uremic syndrome or kidney disease
- Atypical HUS presentation without preceding diarrheal illness
- Multiple organ involvement including liver and endocrine dysfunction
- Poor response to plasma exchange therapy
Clinical Benefits of CFI Gene Testing
Undergoing CFI gene testing provides numerous clinical advantages:
- Accurate Diagnosis: Differentiates genetic aHUS from other thrombotic microangiopathies
- Personalized Treatment: Guides appropriate therapy selection, including complement inhibitors
- Family Risk Assessment: Identifies at-risk relatives for preventive monitoring
- Prognostic Information: Helps predict disease course and recurrence risk
- Therapeutic Monitoring: Assists in evaluating treatment response and adjusting therapy
Understanding Your Test Results
Your genetic test results will fall into one of several categories:
- Positive Result: Identification of a pathogenic CFI mutation confirms genetic predisposition to aHUS and may guide specific complement-targeted therapies
- Negative Result: No CFI mutation detected, suggesting other genetic or acquired causes should be investigated
- Variant of Uncertain Significance: A genetic change with unknown clinical impact requiring further evaluation and family studies
All results should be interpreted by a qualified genetic counselor or medical geneticist in the context of your clinical presentation and family history.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
Before scheduling your CFI Gene Hemolytic Uremic Syndrome NGS Genetic DNA Test, please ensure:
- Complete clinical history documentation is available
- Genetic counseling session is scheduled to create a detailed family pedigree
- Understanding of test implications and potential outcomes
- Informed consent for genetic testing is obtained
Nationwide Testing Availability
We have conveniently located testing facilities across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art laboratories ensure consistent, high-quality genetic testing services nationwide.
Take Control of Your Health Today
Don’t let uncertainty about your condition delay proper diagnosis and treatment. The CFI Gene Hemolytic Uremic Syndrome NGS Genetic DNA Test provides critical information that can transform your healthcare journey. Our experienced genetic counselors and medical specialists are ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward personalized medical care.
Early genetic diagnosis can significantly impact treatment outcomes and quality of life for individuals with atypical hemolytic uremic syndrome. Trust our expertise in genetic diagnostics to provide the answers you need for informed medical decision-making.
