RAG2 Gene Combined Immunodeficiency B Cell-Negative T Cell-Negative NK Cell Positive NGS Genetic DNA Test

Comprehensive Introduction to RAG2 Gene Immunodeficiency Testing

The RAG2 Gene Combined Immunodeficiency NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for severe immune system disorders. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the RAG2 (Recombination Activating Gene 2) that are responsible for combined immunodeficiency conditions characterized by absent B cells and T cells with preserved natural killer (NK) cell function.

RAG2 plays a critical role in V(D)J recombination, the process that generates diverse antigen receptors essential for adaptive immunity. Mutations in this gene disrupt normal immune cell development, leading to severe combined immunodeficiency (SCID) with distinct cellular patterns. Early detection through this specialized test can be life-saving, as it enables prompt intervention before devastating infections occur.

What This Advanced Genetic Test Measures and Detects

Our comprehensive NGS-based analysis specifically targets:

• Complete sequencing of the RAG2 gene coding regions
• Detection of point mutations, insertions, and deletions
• Identification of splice site variants affecting gene function
• Assessment of genetic variants associated with B cell-negative, T cell-negative, NK cell positive SCID
• Comprehensive variant analysis with clinical correlation

The test employs state-of-the-art next-generation sequencing technology that provides unparalleled accuracy in detecting even rare genetic variants that conventional methods might miss. This high-resolution approach ensures comprehensive coverage of the RAG2 gene, delivering reliable results for clinical decision-making.

Who Should Consider RAG2 Gene Testing

Clinical Indications and Symptoms

This specialized genetic test is recommended for individuals presenting with:

• Recurrent, severe, or unusual infections in infancy or early childhood
• Failure to thrive and persistent diarrhea
• Family history of severe combined immunodeficiency
• Unexplained opportunistic infections
• Abnormal lymphocyte counts with absent B and T cells
• Persistent candidiasis or other fungal infections
• Poor response to routine vaccinations
• Consanguineous parentage with suspected autosomal recessive inheritance

At-Risk Populations

Healthcare providers should consider testing for patients with clinical features suggestive of SCID, particularly those with the characteristic immunophenotype of absent B and T lymphocytes with preserved NK cells. Early diagnosis is crucial for considering hematopoietic stem cell transplantation, which offers the best chance for survival.

Significant Benefits of RAG2 Gene Testing

Undergoing this comprehensive genetic analysis provides multiple advantages:

• Accurate Diagnosis: Precise identification of RAG2 mutations confirms the specific genetic cause of immunodeficiency
• Treatment Guidance: Results inform decisions about hematopoietic stem cell transplantation and other therapies
• Family Planning: Enables genetic counseling and carrier testing for family members
• Early Intervention: Facilitates prompt treatment before life-threatening infections develop
• Prognostic Information: Helps predict disease severity and potential complications
• Personalized Medicine: Supports tailored treatment approaches based on specific genetic findings

Understanding Your Test Results

Our comprehensive genetic report provides detailed interpretation of your RAG2 gene analysis:

Possible Result Interpretations

• Pathogenic Variants Detected: Confirms diagnosis of RAG2 deficiency with appropriate genetic counseling recommendations
• Likely Pathogenic Variants: Strong evidence supporting disease causation with clinical correlation needed
• Variants of Uncertain Significance: Requires additional family studies and functional analysis
• No Pathogenic Variants Detected: Does not completely rule out RAG2 deficiency; clinical correlation essential

Clinical Implications

Positive results typically indicate autosomal recessive inheritance, meaning both parents are carriers. This information is crucial for genetic counseling and family planning. Negative results in symptomatic patients may warrant additional genetic testing for other SCID-related genes.

Test Pricing and Availability

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, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and Charlotte. Our network ensures accessible genetic testing services nationwide.

Pre-Test Requirements and Preparation

Before scheduling your RAG2 gene test, please ensure:

• Complete clinical history documentation of the patient
• Genetic counseling session to create a detailed family pedigree chart
• Discussion of testing implications with healthcare provider
• Understanding of potential outcomes and their significance

Take Action for Better Health Outcomes

Early genetic diagnosis of RAG2 deficiency can significantly improve treatment outcomes and quality of life. Don’t delay in seeking answers for persistent immune system concerns. Our specialized genetic testing provides the clarity needed for informed medical decisions and comprehensive care planning.

Ready to schedule your RAG2 Gene Combined Immunodeficiency Test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.