SLC16A2 Gene Allan-Herndon-Dudley Syndrome NGS Genetic DNA Test
Understanding Allan-Herndon-Dudley Syndrome
Allan-Herndon-Dudley syndrome is a rare X-linked genetic disorder affecting neurological development and thyroid hormone metabolism. This condition primarily impacts males and is characterized by severe intellectual disability, impaired speech development, muscle weakness, and movement abnormalities. The syndrome results from mutations in the SLC16A2 gene, which encodes a crucial thyroid hormone transporter protein essential for proper brain development and function.
What This Test Measures
Our advanced NGS Genetic DNA Test specifically analyzes the SLC16A2 gene to identify pathogenic variants responsible for Allan-Herndon-Dudley syndrome. The test examines:
- Complete coding regions of the SLC16A2 gene
- Exon-intron boundaries for splice site mutations
- Copy number variations affecting gene function
- Point mutations, deletions, and insertions
Using cutting-edge Next-Generation Sequencing technology, we achieve comprehensive coverage with exceptional accuracy, detecting even subtle genetic changes that might be missed by conventional testing methods.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Unexplained developmental delays in early childhood
- Severe intellectual disability without clear cause
- Muscle weakness and hypotonia (low muscle tone)
- Impaired or absent speech development
- Movement disorders including spasticity and dystonia
- Family history of X-linked intellectual disability
- Abnormal thyroid function tests with neurological symptoms
Benefits of Genetic Testing
Undergoing the SLC16A2 gene test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Allan-Herndon-Dudley syndrome with high precision
- Personalized Treatment: Guides appropriate medical management and therapeutic interventions
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Enables timely implementation of supportive therapies
- Peace of Mind: Reduces diagnostic uncertainty for families
- Research Contribution: Helps advance understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling service helps you interpret your results:
- Positive Result: Indicates a pathogenic mutation in the SLC16A2 gene, confirming Allan-Herndon-Dudley syndrome diagnosis
- Negative Result: Suggests the tested individual does not have mutations in the SLC16A2 gene associated with this syndrome
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors to ensure complete understanding and appropriate next steps.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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, and San Jose. Our network of certified collection centers ensures accessible testing regardless of your location.
Book Your Test Today
Take the first step toward clarity and proper diagnosis. Our experienced genetic specialists are ready to assist you with comprehensive testing and personalized support. Contact us now to schedule your appointment and begin your journey to understanding.
Call or WhatsApp: +1(267) 388-9828
Our dedicated team provides complete pre-test genetic counseling, streamlined sample collection, and comprehensive post-test support to ensure you receive the highest quality care throughout your testing journey.
