DCLRE1C Gene Omenn Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Severe Combined Immunodeficiency
The DCLRE1C Gene Omenn Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare immune disorders. This advanced genetic screening utilizes state-of-the-art Next Generation Sequencing (NGS) technology to identify mutations in the DCLRE1C gene, which plays a critical role in DNA repair and immune system development. Omenn syndrome is a severe form of combined immunodeficiency that can be life-threatening if not diagnosed early, making this test an essential tool for pediatric immunologists and genetic specialists.
What Does the DCLRE1C Gene Omenn Syndrome Test Detect?
This comprehensive genetic test specifically targets and analyzes the DCLRE1C gene, which encodes the Artemis protein essential for V(D)J recombination in developing lymphocytes. The test identifies:
- Pathogenic mutations in the DCLRE1C gene
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations affecting gene function
- Specific genetic markers associated with Omenn syndrome presentation
- Inheritance patterns for family genetic counseling
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with symptoms suggestive of severe combined immunodeficiency, particularly:
- Infants with recurrent, severe infections within the first months of life
- Children exhibiting failure to thrive and chronic diarrhea
- Patients with extensive skin rashes resembling erythroderma
- Individuals with lymphadenopathy and hepatosplenomegaly
- Family history of primary immunodeficiency disorders
- Siblings of diagnosed Omenn syndrome patients
- Unexplained eosinophilia and elevated IgE levels
Clinical Benefits of Early Genetic Diagnosis
Early detection through the DCLRE1C Gene Omenn Syndrome Test provides numerous clinical advantages:
- Enables prompt initiation of appropriate treatment protocols
- Facilitates hematopoietic stem cell transplantation planning
- Provides accurate genetic counseling for family planning
- Reduces diagnostic uncertainty and unnecessary testing
- Improves long-term survival and quality of life outcomes
- Allows for personalized medical management strategies
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your DCLRE1C gene analysis:
- Positive Result: Identifies pathogenic mutations confirming Omenn syndrome diagnosis, requiring immediate specialist consultation
- Negative Result: No disease-causing variants detected in DCLRE1C gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation who may pass the condition to offspring
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | DCLRE1C Gene Omenn Syndrome NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
GGC DNA maintains 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 accessible genetic testing services for patients nationwide, supported by experienced genetic counselors and clinical specialists.
Take Control of Your Genetic Health Today
Don’t wait to get answers about potential immune disorders. Early genetic diagnosis can significantly impact treatment outcomes and quality of life. Our team of genetic specialists is ready to guide you through the testing process and provide comprehensive support for your healthcare journey.
Call or WhatsApp our genetic counseling team today at +1(267) 388-9828 to schedule your DCLRE1C Gene Omenn Syndrome NGS Genetic DNA Test and take the first step toward precise diagnosis and personalized treatment.
