ATRX Gene Alpha-thalassemia Mental Retardation Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for ATR-X Syndrome
The ATRX Gene Alpha-thalassemia Mental Retardation Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neurodevelopmental disorders. This advanced next-generation sequencing (NGS) test specifically targets the ATRX gene, which plays a critical role in chromatin remodeling and gene regulation. Mutations in this gene lead to ATR-X syndrome, a complex condition characterized by intellectual disability, developmental delays, and hematological abnormalities.
What Does This Test Measure?
Our comprehensive NGS genetic test analyzes the entire coding region of the ATRX gene to identify pathogenic variants, including:
- Point mutations and small insertions/deletions
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene function
- Copy number variations within the ATRX gene
The test utilizes state-of-the-art NGS technology to provide high-resolution genetic data with exceptional accuracy and reliability, ensuring comprehensive coverage of all clinically relevant regions of the ATRX gene.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with the following symptoms or clinical features:
- Unexplained developmental delays in infancy or childhood
- Intellectual disability of unknown origin
- Distinctive facial features including hypertelorism, epicanthal folds, or small nose
- Alpha-thalassemia or abnormal hemoglobin electrophoresis
- Genital abnormalities in males
- Skeletal anomalies or growth retardation
- Family history of similar neurodevelopmental conditions
- Unexplained dysmorphic features in pediatric patients
Clinical Benefits of ATRX Genetic Testing
Early and accurate diagnosis through ATRX gene testing provides numerous clinical advantages:
- Precise Diagnosis: Confirms ATR-X syndrome and differentiates it from other similar conditions
- Family Planning: Enables informed reproductive decisions for at-risk families
- Personalized Management: Guides appropriate medical interventions and therapies
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely implementation of developmental support services
- Hematological Monitoring: Allows proactive management of alpha-thalassemia complications
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your ATRX gene test results:
- Positive Result: Indicates the presence of a pathogenic ATRX mutation, confirming ATR-X syndrome diagnosis
- Negative Result: Suggests no detectable ATRX mutation, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Important for family members and reproductive planning
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| ATRX Gene Alpha-thalassemia Mental Retardation Syndrome NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
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 testing facilities ensures accessible, reliable testing services nationwide.
Pre-Test Requirements
Before scheduling your ATRX genetic test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Family pedigree analysis to identify inheritance patterns
- Understanding of potential outcomes and their significance
Our team of genetic specialists is available to guide you through the entire testing process, from initial consultation to result interpretation and management planning.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about developmental delays or unexplained symptoms continue. The ATRX Gene Alpha-thalassemia Mental Retardation Syndrome NGS Genetic DNA Test provides the answers you need for proper diagnosis and management. Our advanced genetic testing technology, combined with expert clinical support, ensures you receive the most accurate and comprehensive genetic analysis available.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health with confidence and clarity.
