PIEZO2 Gene Marden-Walker Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The PIEZO2 Gene Marden-Walker Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neurological conditions. This advanced test specifically targets mutations in the PIEZO2 gene, which plays a critical role in mechanosensory transduction and neurological development. Marden-Walker syndrome is a complex disorder characterized by multiple congenital anomalies, and early genetic identification can significantly impact patient management and treatment outcomes.
What Does This Test Measure?
This sophisticated genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the PIEZO2 gene for pathogenic variants. The test specifically detects:
- Point mutations and small insertions/deletions in the PIEZO2 gene
- Copy number variations affecting gene function
- Novel variants that may contribute to Marden-Walker syndrome
- Inheritance patterns through family genetic analysis
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of Marden-Walker syndrome, including:
- Infants and children with developmental delays and intellectual disability
- Patients exhibiting joint contractures and limited mobility
- Individuals with characteristic facial features including blepharophimosis and micrognathia
- Those with feeding difficulties and failure to thrive in infancy
- Patients with congenital heart defects or other organ system involvement
- Families with a history of similar neurological conditions
Key Benefits of PIEZO2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Marden-Walker syndrome with high precision
- Treatment Guidance: Informs personalized treatment and management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Enables timely therapeutic interventions for better outcomes
- Research Contribution: Helps advance understanding of rare neurological disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and neurologists. Results typically fall into these categories:
- Positive Result: Identifies a pathogenic variant in the PIEZO2 gene, confirming Marden-Walker syndrome diagnosis
- Negative Result: No disease-causing variants detected, though clinical correlation remains important
- Variant of Uncertain Significance: Identifies genetic changes requiring further investigation and family studies
- Carrier Status: Determines if individuals carry the gene mutation without showing symptoms
All results include comprehensive genetic counseling to ensure proper understanding and next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PIEZO2 Gene Marden-Walker 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 you have:
- Complete clinical history of the patient
- Scheduled genetic counseling session
- Family pedigree chart documenting affected relatives
- Relevant medical records and previous test results
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 state-of-the-art laboratories ensure consistent, high-quality testing results regardless of location.
Take the Next Step Toward Diagnosis
If you or a loved one are experiencing symptoms suggestive of Marden-Walker syndrome, don’t wait to get answers. Our comprehensive PIEZO2 genetic testing provides the clarity needed for proper diagnosis and management. Our team of genetic counselors and neurologists are ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or book your test online. Take control of your neurological health with advanced genetic testing from America’s leading diagnostics provider.
