NFIX Gene Sotos-like Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Developmental Disorders
The NFIX Gene Sotos-like Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool in pediatric genetics, specifically designed to identify mutations in the NFIX gene that cause Sotos-like syndrome. This rare genetic disorder shares clinical features with classic Sotos syndrome but involves distinct genetic mechanisms. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting these complex genetic variations, offering families and healthcare providers definitive diagnostic clarity for challenging clinical presentations.
What This Test Measures and Detects
This specialized genetic test employs sophisticated NGS technology to comprehensively analyze the entire NFIX gene, identifying:
- Point mutations and single nucleotide variants
- Small insertions and deletions (indels)
- Copy number variations affecting the NFIX gene
- Regulatory region abnormalities
- Novel pathogenic variants not previously documented
The test specifically targets the nuclear factor I X (NFIX) gene located on chromosome 19p13.3, which plays a critical role in brain development, cellular differentiation, and growth regulation. Mutations in this gene disrupt normal developmental processes, leading to the characteristic features of Sotos-like syndrome.
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with the following clinical features:
- Developmental delays in motor, cognitive, or speech domains
- Accelerated growth patterns during childhood
- Characteristic facial features including macrocephaly, prominent forehead, and down-slanting palpebral fissures
- Intellectual disability or learning difficulties
- Behavioral challenges including autism spectrum features
- Advanced bone age on radiographic evaluation
- Family history suggestive of autosomal dominant inheritance
- Clinical suspicion of Sotos syndrome with negative NSD1 testing
Clinical Benefits of NFIX Genetic Testing
Undergoing NFIX gene testing provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms or rules out Sotos-like syndrome with high accuracy
- Personalized Management: Enables targeted interventions and monitoring protocols
- Genetic Counseling: Provides accurate recurrence risk information for family planning
- Early Intervention: Facilitates timely access to developmental therapies and educational support
- Medical Surveillance: Guides appropriate screening for associated health concerns
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identifies a pathogenic or likely pathogenic variant in the NFIX gene, confirming the diagnosis of Sotos-like syndrome
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Information relevant for family members and reproductive planning
All positive results include detailed clinical correlation, management recommendations, and genetic counseling guidance. Our team of board-certified genetic counselors is available to help you understand your results and their implications.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | NFIX Gene Sotos-like Syndrome NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
| Specialty | Pediatrics |
| Department | Genetics |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session prior to testing
- Development of detailed pedigree chart documenting family history
- Clinical evaluation by a genetics specialist
- Informed consent process discussing test implications
Nationwide Accessibility
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 genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
If you or your child exhibits symptoms suggestive of Sotos-like syndrome, don’t delay in seeking definitive answers. Our specialized NFIX genetic testing provides the clarity needed for appropriate medical management and family planning decisions. Contact our genetic counseling team today to discuss your testing options and schedule your appointment.
Call or WhatsApp us at +1(267) 388-9828 to book your NFIX Gene Sotos-like Syndrome NGS Genetic DNA Test today. Our knowledgeable staff is ready to assist you with scheduling, insurance questions, and any concerns you may have about the testing process.
