SMARCA2 Gene Nicolaides-Baraitser Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurodevelopmental Disorders
The SMARCA2 Gene Nicolaides-Baraitser Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neurodevelopmental conditions. This advanced testing methodology utilizes cutting-edge Next-Generation Sequencing (NGS) technology to provide comprehensive analysis of the SMARCA2 gene, which plays a crucial role in chromatin remodeling and gene regulation. Early and accurate diagnosis through this test enables healthcare providers to implement targeted interventions and personalized treatment approaches for affected individuals.
What This Test Measures and Detects
Our sophisticated NGS-based genetic test specifically targets the SMARCA2 gene, identifying pathogenic variants and mutations associated with Nicolaides-Baraitser syndrome. The test analyzes:
- Point mutations and single nucleotide variants in the SMARCA2 gene
- Small insertions and deletions affecting gene function
- Missense, nonsense, and frameshift mutations
- Regulatory region variants impacting gene expression
- Copy number variations within the SMARCA2 locus
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with clinical features suggestive of Nicolaides-Baraitser syndrome, including:
- Children with developmental delays and intellectual disability
- Individuals with sparse scalp hair (hypotrichosis) from infancy
- Patients showing distinctive facial features including prominent interphalangeal joints
- Those with microcephaly or unusual skull shape
- Individuals exhibiting seizures or neurological abnormalities
- Patients with short stature and skeletal anomalies
- Children with speech and language delays
- Individuals with behavioral challenges including autism spectrum features
Significant Benefits of Genetic Testing
Undergoing the SMARCA2 Gene Nicolaides-Baraitser Syndrome NGS Genetic DNA Test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out Nicolaides-Baraitser syndrome with high precision
- Personalized Treatment: Enables targeted interventions and management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of developmental support services
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your test results effectively:
- Positive Result: Indicates the presence of a pathogenic SMARCA2 variant, confirming Nicolaides-Baraitser syndrome diagnosis
- Negative Result: Suggests absence of detectable SMARCA2 mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further investigation and family studies
- Carrier Status: Determines if individuals carry SMARCA2 mutations without showing symptoms
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | SMARCA2 Gene Nicolaides-Baraitser 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 and Preparation
Before undergoing testing, patients should provide:
- Complete clinical history documenting developmental milestones and physical features
- Participation in genetic counseling session to create detailed family pedigree
- Documentation of affected family members with similar symptoms
- Recent medical evaluations and specialist consultations
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.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our specialized SMARCA2 genetic testing provides the answers you need for informed medical decisions and personalized care planning. Contact our genetic specialists today to schedule your test and begin your journey toward genetic clarity.
Call or WhatsApp us now at +1(267) 388-9828 to book your SMARCA2 Gene Nicolaides-Baraitser Syndrome NGS Genetic DNA Test and take advantage of our special $500 USD pricing.
