STAT3 Gene Hyper-IgE Recurrent Infection Syndrome NGS Genetic DNA Test
Understanding STAT3 Hyper-IgE Syndrome Genetic Testing
The STAT3 Gene Hyper-IgE Recurrent Infection Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the STAT3 gene that cause Hyper-IgE Syndrome (HIES), also known as Job’s Syndrome. This rare primary immunodeficiency disorder affects multiple body systems, including the immune system, skin, and skeletal structure. Early and accurate diagnosis through genetic testing is crucial for implementing appropriate treatment strategies and improving patient outcomes.
What This Advanced Genetic Test Measures
Our comprehensive NGS (Next-Generation Sequencing) genetic test specifically targets the STAT3 gene to identify pathogenic variants responsible for Hyper-IgE Syndrome. The test analyzes:
- Point mutations in the STAT3 gene coding regions
- Small insertions and deletions affecting gene function
- Missense, nonsense, and frameshift mutations
- Regulatory regions that may impact STAT3 expression
- Dominant-negative mutations characteristic of autosomal dominant HIES
Who Should Consider STAT3 Genetic Testing?
This specialized genetic test is recommended for individuals presenting with clinical features suggestive of Hyper-IgE Syndrome, including:
Clinical Indications and Symptoms
- Recurrent Infections: Frequent staphylococcal skin abscesses, pneumonia, and fungal infections
- Dermatological Manifestations: Severe eczema, chronic candidiasis, and skin abscesses
- Immunological Abnormalities: Extremely elevated IgE levels (>2000 IU/mL)
- Skeletal Features: Characteristic facial features, retained primary teeth, and scoliosis
- Respiratory Complications: Pneumatoceles and recurrent lung infections
- Family History: Individuals with relatives diagnosed with HIES or similar immunodeficiency disorders
Comprehensive Benefits of STAT3 Genetic Testing
Undergoing STAT3 genetic testing provides numerous advantages for patients and healthcare providers:
Diagnostic and Clinical Benefits
- Accurate Diagnosis: Confirms Hyper-IgE Syndrome with high specificity
- Personalized Treatment: Guides targeted therapeutic interventions
- Family Planning: Provides genetic counseling information for family members
- Prognostic Information: Helps predict disease progression and complications
- Early Intervention: Enables proactive management of potential complications
- Differential Diagnosis: Distinguishes STAT3-HIES from other immunodeficiency disorders
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your STAT3 gene test results:
Result Interpretation Guidance
- Positive Result: Identification of a pathogenic STAT3 mutation confirms Hyper-IgE Syndrome diagnosis
- Negative Result: No STAT3 mutation detected, suggesting alternative diagnoses should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for family members and genetic counseling
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | STAT3 Gene Hyper-IgE Recurrent Infection 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 |
| Specialty | Dermatology, Genetics, Immunology |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements and Preparation
To ensure accurate testing and comprehensive results, we require:
- Complete clinical history of the patient undergoing STAT3 genetic testing
- Genetic counseling session to create a detailed pedigree chart of affected family members
- Documentation of previous immunological testing and clinical findings
- Informed consent for genetic testing and result interpretation
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and medical professionals ensures you receive comprehensive support throughout the testing process.
Take Control of Your Health Today
Don’t let unexplained recurrent infections and immunological concerns remain undiagnosed. Our STAT3 Gene Hyper-IgE Recurrent Infection Syndrome NGS Genetic DNA Test provides the clarity you need for proper diagnosis and treatment planning. With our discounted price of $500 USD and comprehensive genetic counseling support, you can make informed decisions about your health and future.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward accurate diagnosis and personalized care for Hyper-IgE Syndrome.
