PRF1 Gene Hemophagocytic Lymphohistiocytosis Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Immune Disorders
The PRF1 Gene Hemophagocytic Lymphohistiocytosis Type 2 NGS Genetic DNA Test represents a breakthrough in diagnostic precision for rare immunological conditions. This advanced genetic screening utilizes cutting-edge next-generation sequencing technology to identify mutations in the PRF1 gene, which plays a critical role in immune system regulation and cellular function.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the PRF1 (Perforin-1) gene, which encodes a protein essential for cytotoxic T-lymphocyte and natural killer cell function. The test detects:
- Point mutations, insertions, and deletions in the PRF1 gene
- Genetic variations associated with familial hemophagocytic lymphohistiocytosis type 2 (FHL2)
- Inheritance patterns and carrier status for family planning
- Specific mutations that impact perforin protein production and function
Who Should Consider This Genetic Test
This specialized genetic screening is recommended for individuals presenting with:
- Unexplained persistent fevers lasting more than 7 days
- Recurrent cytopenias affecting multiple blood cell lines
- Hepatosplenomegaly without clear infectious cause
- Neurological symptoms including seizures or altered mental status
- Family history of hemophagocytic lymphohistiocytosis or immune disorders
- Children with suspected primary immunodeficiency syndromes
- Individuals with abnormal immune cell function test results
Clinical Benefits of Early Detection
Early identification of PRF1 gene mutations provides significant clinical advantages:
- Enables timely intervention before severe complications develop
- Facilitates appropriate hematopoietic stem cell transplantation planning
- Guides targeted immunosuppressive therapy selection
- Provides crucial information for family genetic counseling
- Supports reproductive planning decisions for affected families
- Reduces diagnostic uncertainty and unnecessary medical procedures
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates the presence of pathogenic PRF1 gene mutations associated with FHL2. This requires immediate consultation with an immunology specialist for treatment planning.
- Negative Result: No disease-causing mutations detected in the PRF1 gene. However, clinical correlation with symptoms remains essential.
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical impact, requiring ongoing monitoring and family studies.
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but typically do not show symptoms.
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
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with specialized centers in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures convenient access to advanced genetic testing regardless of your location.
Take Action for Your Health Today
Don’t let uncertainty about potential genetic immune disorders affect your quality of life. Our PRF1 Gene Hemophagocytic Lymphohistiocytosis Type 2 NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare decisions. With our discounted price of only $500 USD, advanced genetic screening is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert genetic counselors are available to discuss your specific concerns and guide you through the testing process.
Remember: Early detection through comprehensive genetic testing can significantly improve treatment outcomes and quality of life for individuals affected by rare immune disorders. Take the first step toward genetic clarity and personalized medical management today.
