SMARCE1 Gene Coffin-Siris Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Coffin-Siris Syndrome
The SMARCE1 Gene Coffin-Siris Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the SMARCE1 gene, which are directly associated with Coffin-Siris syndrome. This rare genetic disorder affects multiple body systems and requires precise genetic confirmation for accurate diagnosis and management. Our advanced testing methodology provides healthcare providers and families with definitive genetic information essential for developing targeted treatment strategies and understanding inheritance patterns.
What This Test Measures and Detects
This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the SMARCE1 gene for pathogenic variants. The test specifically identifies:
- Point mutations and small insertions/deletions in the SMARCE1 gene
- Pathogenic variants associated with Coffin-Siris syndrome type 5
- Genetic changes affecting the SWI/SNF chromatin remodeling complex
- Inheritance patterns and carrier status information
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with clinical features suggestive of Coffin-Siris syndrome, including:
- Developmental delay and intellectual disability
- Distinctive facial features including coarse facial appearance
- Sparse scalp hair and hypertrichosis on other body areas
- Fifth finger and toenail hypoplasia or absence
- Growth abnormalities and feeding difficulties
- Speech and language delays
- Behavioral challenges including autism spectrum features
Key Benefits of SMARCE1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms or rules out SMARCE1-related Coffin-Siris syndrome with high precision
- Personalized Care: Enables development of targeted management strategies based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decision-making
- Early Intervention: Facilitates timely implementation of appropriate therapies and support services
- Medical Management: Guides healthcare providers in monitoring for associated medical complications
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your SMARCE1 gene analysis:
- Positive Result: Indicates the presence of a pathogenic variant in the SMARCE1 gene, confirming Coffin-Siris syndrome diagnosis
- Negative Result: Suggests no disease-causing variants were detected in the SMARCE1 gene
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed clinical interpretation and recommendations from our board-certified genetic specialists.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | SMARCE1 Gene Coffin-Siris 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 |
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, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee. Our extensive network ensures accessible genetic testing services for families throughout the country.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions impact your family’s health decisions. Our SMARCE1 Gene Coffin-Siris Syndrome NGS Genetic DNA Test provides the definitive answers you need for informed medical management and family planning. With our discounted price of $500 USD and comprehensive genetic analysis, you can gain valuable insights into this complex condition.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic counseling team. Take control of your genetic health with confidence and precision.
