RFXANK Gene Bare Lymphocyte Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Immunodeficiency
The RFXANK Gene Bare Lymphocyte Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare immunodeficiency disorders. This advanced genetic analysis specifically targets mutations in the RFXANK gene, which plays a critical role in the immune system’s ability to recognize and combat pathogens. Bare Lymphocyte Syndrome Type 2 (BLS2) is a severe form of combined immunodeficiency that can be life-threatening if undiagnosed, making early detection through this specialized test essential for proper medical management and treatment planning.
What This Test Measures and Detects
Our state-of-the-art Next Generation Sequencing (NGS) technology provides comprehensive analysis of the RFXANK gene to identify:
- Pathogenic variants and mutations in the RFXANK gene regulatory factor
- Single nucleotide polymorphisms (SNPs) associated with BLS2
- Insertions, deletions, and copy number variations affecting gene function
- Compound heterozygous mutations that may cause disease manifestation
- Carrier status for autosomal recessive inheritance patterns
The RFXANK gene encodes a crucial component of the regulatory factor X complex, which is essential for the expression of major histocompatibility complex (MHC) class II molecules. Mutations in this gene disrupt normal immune function, leading to the characteristic features of Bare Lymphocyte Syndrome Type 2.
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Recurrent, severe bacterial, viral, or fungal infections in infancy or childhood
- Failure to thrive and persistent diarrhea in early development
- Family history of immunodeficiency disorders or unexplained infant deaths
- Absent or significantly reduced CD4+ T-cell counts
- Unexplained chronic respiratory infections or opportunistic infections
- Suspected combined immunodeficiency based on clinical presentation
- Previous siblings diagnosed with severe immunodeficiency conditions
Clinical Benefits of RFXANK Genetic Testing
Early diagnosis through comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Bare Lymphocyte Syndrome Type 2 with high precision
- Personalized Treatment: Enables targeted therapeutic interventions and management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely hematopoietic stem cell transplantation when indicated
- Prognostic Information: Helps predict disease severity and potential complications
- Reduced Diagnostic Odyssey: Minimizes unnecessary testing and medical procedures
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your RFXANK gene analysis:
- Positive Result: Indicates the presence of pathogenic mutations consistent with Bare Lymphocyte Syndrome Type 2 diagnosis. This requires immediate consultation with an immunology specialist for comprehensive management planning.
- Negative Result: Suggests no detectable mutations in the RFXANK gene, though other genetic causes of immunodeficiency may need consideration.
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications, requiring further evaluation and possibly family studies.
- Carrier Status: Identifies individuals with one mutated copy of the RFXANK gene who are typically asymptomatic but can pass the condition to offspring.
All results are accompanied by detailed clinical correlations and recommendations for follow-up care with qualified genetics and immunology specialists.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or FTA Card |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection facilities ensures accessible genetic testing services nationwide.
Pre-Test Requirements and Genetic Counseling
Prior to testing, we recommend:
- Comprehensive clinical history documentation of symptoms and previous infections
- Genetic counseling session to create detailed family pedigree analysis
- Discussion of potential implications and limitations of genetic testing
- Informed consent process explaining the nature of the test and possible outcomes
Our certified genetic counselors are available to guide you through the testing process and help interpret results within the context of your personal and family medical history.
Take Control of Your Genetic Health Today
Don’t let uncertainty about potential immunodeficiency disorders affect your quality of life. Early detection through comprehensive genetic testing can provide the answers you need for informed medical decisions and personalized treatment approaches. Our team of genetics and immunology specialists is ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your RFXANK Gene Bare Lymphocyte Syndrome Type 2 NGS Genetic DNA Test appointment. Our knowledgeable staff will assist with insurance verification, appointment scheduling, and answer any questions about the testing process.
Take the first step toward understanding your genetic health and ensuring optimal immune system function for yourself and your family members.
