AAAS Full Gene Sequence Analysis for Allogrove Syndrome
Comprehensive Genetic Testing for Triple A Syndrome
The AAAS Full Gene Sequence Analysis represents a cutting-edge diagnostic approach for identifying Allogrove Syndrome, also known as Triple A Syndrome. This comprehensive genetic test provides healthcare providers and patients with definitive molecular evidence of mutations in the AAAS gene, enabling accurate diagnosis and personalized treatment planning for this rare genetic condition.
What is Allogrove Syndrome?
Allogrove Syndrome is a rare autosomal recessive disorder characterized by three primary features: adrenal insufficiency, achalasia cardia, and alacrima (inability to produce tears). First described in 1978, this condition results from mutations in the AAAS gene located on chromosome 12q13. The AAAS gene encodes the ALADIN protein, which plays a crucial role in nuclear pore complex function and cellular stress response mechanisms.
What the Test Measures and Detects
Our AAAS Full Gene Sequence Analysis utilizes advanced Sanger sequencing technology to examine the complete coding region of the AAAS gene. This comprehensive analysis detects:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene expression
The test provides 100% coverage of the AAAS gene coding regions, ensuring no pathogenic variants are missed in the analysis process.
Who Should Consider This Test
This genetic analysis is recommended for individuals presenting with clinical features suggestive of Allogrove Syndrome, including:
- Patients with unexplained adrenal insufficiency
- Individuals experiencing difficulty swallowing (dysphagia) due to achalasia
- Patients with reduced or absent tear production (alacrima)
- Children with progressive neurological symptoms
- Individuals with autonomic nervous system dysfunction
- Patients with family history of Triple A Syndrome
- Those with unexplained hypoglycemia or salt-wasting crises
Clinical Indications and Symptoms
The test is particularly valuable for patients exhibiting the classic triad of symptoms or any combination of adrenal insufficiency, gastrointestinal motility disorders, and ocular abnormalities. Additional neurological manifestations may include progressive muscle weakness, sensory disturbances, and developmental delays in pediatric cases.
Benefits of AAAS Genetic Testing
Undergoing AAAS Full Gene Sequence Analysis provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out Allogrove Syndrome with molecular precision
- Personalized Treatment: Enables targeted management strategies for adrenal insufficiency and gastrointestinal symptoms
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely treatment initiation to prevent complications
- Prognostic Information: Helps predict disease progression and potential complications
- Differential Diagnosis: Distinguishes Allogrove Syndrome from other conditions with overlapping symptoms
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results:
Positive Result
A positive result indicates the presence of pathogenic mutations in both copies of the AAAS gene, confirming the diagnosis of Allogrove Syndrome. Your healthcare provider will develop a comprehensive management plan addressing adrenal function, gastrointestinal symptoms, and neurological manifestations.
Negative Result
A negative result suggests that no disease-causing mutations were detected in the AAAS gene. However, clinical correlation remains essential, as some rare mutations or regulatory variants may not be detected by standard sequencing methods.
Variant of Uncertain Significance (VUS)
In some cases, genetic changes of unknown clinical significance may be identified. These variants require additional family studies and clinical correlation to determine their potential impact on health.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | AAAS Full Gene Sequence Analysis for Allogrove Syndrome |
| Regular Price | $1000 USD |
| Discount Price | $750 USD |
| Turnaround Time | 2-3 weeks |
| Sample Type | Peripheral blood, Amniotic Fluid, Chorionic villi, Cord blood |
| Test Components | Sterile container, Sterile Normal Saline Container, EDTA Vacutainer (2ml) |
| Methodology | Sanger Sequencing |
Pre-Test Instructions
The AAAS Full Gene Sequence Analysis requires a doctor’s prescription for testing. Prescription requirements do not apply to surgical cases, pregnancy-related testing, or individuals planning international travel. Please consult with your healthcare provider to obtain the necessary documentation before scheduling your test.
Nationwide Testing Availability
We proudly offer AAAS genetic testing services across the United States, with convenient locations 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 laboratories ensure consistent, high-quality results regardless of collection location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about potential genetic conditions affect your quality of life. Our AAAS Full Gene Sequence Analysis provides the clarity needed for informed medical decisions and personalized treatment approaches. With our discounted price of $750 USD and comprehensive 2-3 week turnaround time, you can access world-class genetic testing without delay.
Ready to Schedule Your Test?
Contact our genetic counseling team today to discuss your testing options and schedule your appointment. Call us at +1(267) 388-9828 or use our online booking system to secure your preferred testing date. Our knowledgeable staff is available to answer your questions and guide you through the testing process.
Book your AAAS Full Gene Sequence Analysis today and take the first step toward definitive diagnosis and personalized care for Allogrove Syndrome.
