RFX5 Gene Bare Lymphocyte Syndrome Type 2 Complementation Group C NGS Genetic DNA Test
Comprehensive Genetic Testing for Immunodeficiency Disorders
The RFX5 Gene Bare Lymphocyte Syndrome Type 2 Complementation Group C NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the RFX5 gene, which plays a crucial role in immune system function. This specialized test utilizes next-generation sequencing (NGS) technology to provide comprehensive analysis of genetic variations associated with Bare Lymphocyte Syndrome Type 2, a rare but serious immunodeficiency disorder.
What This Test Measures and Detects
This advanced genetic test specifically targets the RFX5 gene, which encodes a regulatory factor essential for proper expression of major histocompatibility complex (MHC) class II molecules. The test detects:
- Point mutations in the RFX5 gene sequence
- Insertions and deletions affecting gene function
- Regulatory region variations impacting gene expression
- Compound heterozygous mutations
- Novel genetic variants with potential clinical significance
Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with:
- Recurrent severe infections beginning in infancy
- Failure to thrive and developmental delays
- Family history of immunodeficiency disorders
- Unexplained chronic diarrhea and malabsorption
- Persistent viral, bacterial, or fungal infections
- Abnormal lymphocyte counts or function
- Previous inconclusive immune system evaluations
Clinical Benefits of Genetic Testing
Undergoing the RFX5 gene test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Bare Lymphocyte Syndrome Type 2
- Treatment Guidance: Informs decisions regarding bone marrow transplantation
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Enables prompt treatment initiation
- Prognostic Information: Helps predict disease progression and outcomes
- Research Contribution: Advances understanding of rare immunodeficiency disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and hematologists:
- Positive Result: Indicates the presence of pathogenic mutations in the RFX5 gene, confirming the diagnosis of Bare Lymphocyte Syndrome Type 2
- Negative Result: Suggests no disease-causing mutations were detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes whose clinical impact requires further investigation
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have established testing facilities across the United States, with branches in all 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 this specialized genetic testing regardless of your location.
Take Control of Your Health Today
Don’t let uncertainty about your immune health continue. Our comprehensive RFX5 gene testing provides the clarity needed for informed medical decisions. With advanced NGS technology and expert genetic analysis, you’ll receive accurate, reliable results to guide your healthcare journey.
Book your RFX5 Gene Bare Lymphocyte Syndrome Type 2 Complementation Group C NGS Genetic DNA Test today by calling our dedicated healthcare line at +1(267) 388-9828 or schedule your appointment online. Our genetic counselors are available to discuss your testing options and answer any questions you may have about the process.
