ATRX Gene Alpha-thalassemia/Mental Retardation Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The ATRX Gene Alpha-thalassemia/Mental Retardation Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neurodevelopmental conditions. This advanced testing methodology provides crucial insights into the ATRX gene mutations responsible for a complex syndrome characterized by intellectual disability, hematological abnormalities, and distinctive physical features. Early and accurate diagnosis through this test enables targeted interventions and personalized treatment approaches.
What Does This Test Measure and Detect?
This sophisticated genetic analysis specifically targets the ATRX (Alpha-Thalassemia/Mental Retardation Syndrome X-Linked) gene using Next-Generation Sequencing technology. The test identifies:
- Pathogenic variants and mutations in the ATRX gene
- Single nucleotide polymorphisms (SNPs) associated with the syndrome
- Deletions, insertions, and copy number variations
- X-linked inheritance patterns
- Genetic markers for alpha-thalassemia and intellectual disability
Who Should Consider This Genetic Test?
This comprehensive genetic screening is recommended for individuals presenting with:
- Unexplained intellectual disability or developmental delays
- Characteristic facial features including hypertelorism, epicanthal folds, or small nose
- Alpha-thalassemia or abnormal hemoglobin electrophoresis results
- Family history of X-linked intellectual disability
- Genitourinary abnormalities in males
- Feeding difficulties and growth retardation in infancy
- Suspected neurodevelopmental disorders with hematological components
Significant Benefits of ATRX Gene Testing
Undergoing this genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out ATR-X syndrome with 99% accuracy
- Early Intervention: Enables timely therapeutic interventions and educational support
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides development of tailored treatment and management strategies
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your results:
- Positive Result: Indicates the presence of ATRX gene mutation, confirming diagnosis of ATR-X syndrome
- Negative Result: Suggests absence of detectable ATRX mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | ATRX Gene Alpha-thalassemia/Mental Retardation 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
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Informed consent process completion
Nationwide Testing Availability
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 cities. Our network of certified genetic counselors and healthcare professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our ATRX Gene Alpha-thalassemia/Mental Retardation Syndrome NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With our discounted price of only $500 USD and comprehensive genetic counseling support, you can gain valuable insights into neurological health and inheritance patterns.
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 precision.
