NSD1 Gene Sotos Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Overgrowth Syndrome
The NSD1 Gene Sotos Syndrome Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Sotos syndrome, a rare genetic disorder characterized by distinctive physical overgrowth patterns and developmental challenges. This sophisticated genetic analysis utilizes next-generation sequencing technology to provide definitive answers for families and healthcare providers seeking clarity about this complex condition.
What Does This Test Measure and Detect?
This comprehensive genetic test specifically targets the NSD1 (Nuclear Receptor Binding SET Domain Protein 1) gene located on chromosome 5q35. The test employs advanced NGS methodology to:
- Identify pathogenic variants and mutations within the NSD1 gene
- Detect both inherited and de novo genetic alterations
- Analyze the entire coding region and splice sites of the NSD1 gene
- Provide comprehensive coverage of known mutation hotspots
- Offer high-resolution detection of single nucleotide variants, small insertions, and deletions
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with clinical features suggestive of Sotos syndrome, including:
- Children exhibiting excessive growth during early childhood
- Individuals with distinctive facial features including prominent forehead, pointed chin, and down-slanting eyes
- Patients experiencing developmental delays in motor, cognitive, and speech domains
- Individuals with advanced bone age and large head circumference (macrocephaly)
- Those with behavioral challenges including attention deficits and social difficulties
- Patients with a family history of Sotos syndrome or similar overgrowth conditions
- Individuals with unexplained intellectual disability and characteristic facial dysmorphism
Clinical Benefits of NSD1 Genetic Testing
Undergoing NSD1 genetic testing provides numerous clinical advantages for patients and their families:
- Definitive Diagnosis: Confirms or rules out Sotos syndrome with high accuracy
- Personalized Management: Enables tailored medical surveillance and intervention strategies
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of developmental support services
- Medical Monitoring: Guides appropriate screening for associated health concerns
- Psychological Relief: Reduces diagnostic uncertainty and provides clarity for families
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your NSD1 test results:
- Positive Result: Indicates the presence of a pathogenic NSD1 mutation confirming Sotos syndrome diagnosis
- Negative Result: Suggests that NSD1 mutations are not detected, though clinical evaluation remains important
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Provides information about inheritance patterns and recurrence risks
All results are accompanied by detailed explanations and genetic counseling recommendations to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | NSD1 Gene Sotos Syndrome Type 1 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 |
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 genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Development of detailed family pedigree chart
- Review of potential benefits and limitations of testing
- Discussion of insurance coverage and financial considerations
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about Sotos syndrome affect your family’s future. Our specialized NSD1 genetic testing provides the answers you need for informed medical decisions and comprehensive care planning. With advanced NGS technology and expert genetic counseling support, we deliver reliable results you can trust.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your NSD1 Gene Sotos Syndrome Type 1 NGS Genetic DNA Test and take control of your genetic health journey.
