NOD2 Gene Blau Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Pediatric Autoimmune Conditions
The NOD2 Gene Blau Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool in pediatric genetics, specifically designed to identify mutations in the NOD2 gene that cause Blau syndrome. This rare autosomal dominant inflammatory disorder primarily affects children and is characterized by granulomatous inflammation affecting multiple organ systems. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting genetic variations that traditional testing methods might miss.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the NOD2 gene (nucleotide-binding oligomerization domain-containing protein 2), which plays a critical role in the innate immune system’s response to bacterial components. The test detects:
- Pathogenic variants in the NOD2 gene associated with Blau syndrome
- Specific mutations in the NACHT domain of the NOD2 protein
- Autosomal dominant inheritance patterns
- Genetic markers for early-onset granulomatous disease
- Variants affecting inflammatory pathway regulation
Who Should Consider This Test?
This genetic test is particularly recommended for children and individuals presenting with the following symptoms or clinical features:
- Early-onset skin rashes with granulomatous characteristics
- Persistent arthritis affecting multiple joints
- Chronic uveitis or eye inflammation
- Family history of similar autoimmune conditions
- Unexplained granulomatous inflammation in multiple organs
- Developmental delays associated with inflammatory symptoms
- Suspected autoimmune disorders with unclear diagnosis
Clinical Benefits of Genetic Testing
Undergoing the NOD2 Gene Blau Syndrome test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Blau syndrome with high precision
- Early Intervention: Enables timely treatment initiation before irreversible damage occurs
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Treatment Guidance: Helps tailor immunosuppressive therapies based on genetic findings
- Prognostic Information: Offers insights into disease progression and potential complications
- Differential Diagnosis: Distinguishes Blau syndrome from other granulomatous disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic NOD2 mutation, confirming Blau syndrome diagnosis and guiding targeted treatment approaches
- Negative Result: Suggests that Blau syndrome is unlikely, prompting investigation of alternative diagnoses
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation and possibly additional family testing
- Carrier Status: Provides information about inheritance patterns and recurrence risks
All results are accompanied by detailed clinical interpretation and recommendations from our board-certified genetic specialists.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | NOD2 Gene Blau 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process for genetic testing
Nationwide Accessibility
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 centers ensures accessible testing regardless of your location.
Take the Next Step Toward Diagnosis
Don’t let uncertainty about your child’s health condition persist. 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.
Call us today at +1(267) 388-9828 to schedule your appointment or book your test online. Take control of your family’s health journey with definitive genetic answers.
