RAG2 Gene Omenn Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Immunodeficiency Disorders
The RAG2 Gene Omenn Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for severe combined immunodeficiency disorders. This advanced test specifically targets mutations in the RAG2 gene, which plays a critical role in the development and function of the immune system. Omenn syndrome is a rare but life-threatening condition characterized by severe immune deficiency, and early detection through genetic testing can significantly improve patient outcomes and guide appropriate treatment strategies.
What Does the RAG2 Gene Omenn Syndrome Test Measure?
This comprehensive genetic test utilizes Next-Generation Sequencing (NGS) technology to analyze the complete coding region of the RAG2 gene. The test specifically detects:
- Pathogenic mutations in the RAG2 gene associated with Omenn syndrome
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations affecting the RAG2 gene
- Genetic variants that impair V(D)J recombination process
- Mutations affecting T-cell and B-cell development
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following symptoms or clinical indications:
- Infants with severe combined immunodeficiency (SCID) features
- Recurrent, severe infections beginning in early infancy
- Failure to thrive and persistent diarrhea
- Severe eczema-like skin rashes
- Enlarged lymph nodes and spleen
- Elevated IgE levels with eosinophilia
- Family history of immunodeficiency disorders
- Unexplained infant deaths in the family
- Suspected autoimmune manifestations
Clinical Benefits of RAG2 Genetic Testing
Undergoing the RAG2 Gene Omenn Syndrome NGS Genetic DNA Test provides numerous clinical advantages:
- Early Diagnosis: Enables prompt identification of Omenn syndrome before severe complications develop
- Personalized Treatment: Guides appropriate therapeutic interventions including hematopoietic stem cell transplantation
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease severity and potential complications
- Preventive Measures: Allows for implementation of infection prevention strategies
- Research Contribution: Contributes to ongoing research in immunodeficiency disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your RAG2 gene test results:
- Positive Result: Indicates the presence of pathogenic mutations in the RAG2 gene, confirming Omenn syndrome diagnosis
- Negative Result: Suggests no detectable mutations in the RAG2 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | RAG2 Gene Omenn Syndrome NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before undergoing the RAG2 Gene Omenn Syndrome NGS Genetic DNA Test, patients should complete the following:
- Provide comprehensive clinical history including symptoms and family medical background
- Participate in a genetic counseling session with our certified genetic counselors
- Complete a detailed pedigree chart documenting family members affected by immunodeficiency disorders
- Discuss testing implications and potential outcomes with healthcare providers
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, and many other cities. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. The RAG2 Gene Omenn Syndrome NGS Genetic DNA Test provides definitive answers that can guide critical medical interventions and improve quality of life. Our team of genetic 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 genetic counseling session and book your test. Early detection through genetic testing can make a significant difference in managing immunodeficiency disorders effectively.
