AIRE Gene Autoimmune Polyendocrinopathy Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Autoimmune Disorders
The AIRE Gene Autoimmune Polyendocrinopathy Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for autoimmune conditions. This advanced test utilizes next-generation sequencing technology to analyze the AIRE (Autoimmune Regulator) gene, which plays a critical role in immune system regulation and self-tolerance mechanisms.
What is Autoimmune Polyendocrinopathy Syndrome Type 1?
Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1), also known as Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), is a rare inherited autoimmune disorder caused by mutations in the AIRE gene. This condition typically manifests in childhood and involves multiple autoimmune attacks on various endocrine glands and other organs.
What the Test Measures and Detects
Our comprehensive NGS genetic test specifically targets:
- Complete sequencing of the AIRE gene to identify pathogenic mutations
- Detection of single nucleotide variants, insertions, and deletions
- Analysis of known APS-1 associated mutations
- Identification of novel genetic variations with clinical significance
- Assessment of autosomal recessive inheritance patterns
The test provides definitive molecular diagnosis for APS-1, enabling precise medical management and family planning decisions.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Chronic mucocutaneous candidiasis unresponsive to standard treatments
- Multiple endocrine gland failures (hypoparathyroidism, adrenal insufficiency)
- Family history of APS-1 or autoimmune polyglandular syndromes
- Unexplained autoimmune disorders affecting multiple organ systems
- Ectodermal dystrophy symptoms including enamel hypoplasia and nail dystrophy
- Early-onset autoimmune conditions in childhood or adolescence
- Suspected autoimmune hepatitis or other organ-specific autoimmune manifestations
Benefits of Taking the AIRE Gene Test
Early genetic diagnosis through our NGS test offers numerous advantages:
- Precise Diagnosis: Confirms APS-1 diagnosis when clinical presentation is ambiguous
- Personalized Treatment: Enables targeted management strategies for specific autoimmune manifestations
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive monitoring and prevention of complications
- Comprehensive Care: Guides multidisciplinary approach involving endocrinology, dermatology, and immunology specialists
- Prognostic Information: Helps predict disease progression and potential complications
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will be carefully interpreted by our expert genetic counselors:
- Positive Result: Identification of two pathogenic AIRE gene mutations confirms APS-1 diagnosis
- Carrier Status: Detection of one mutation indicates carrier status with no disease manifestation
- Negative Result: No mutations found significantly reduces likelihood of APS-1
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
All positive results include detailed genetic counseling to discuss implications, management strategies, and family testing recommendations.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | AIRE Gene Autoimmune Polyendocrinopathy Syndrome Type 1 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of test implications and potential outcomes
- Informed consent for genetic testing
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 ensures accessible genetic testing services regardless of your location.
Take Control of Your Genetic Health
Don’t let uncertainty about autoimmune symptoms affect your quality of life. Our AIRE Gene NGS test provides definitive answers and empowers you with knowledge for better health management. Early diagnosis of APS-1 can significantly improve treatment outcomes and quality of life.
Book your comprehensive genetic test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic health and managing autoimmune conditions effectively.
