FGFR2 Gene Scaphocephaly Maxillary Retrusion and Mental Retardation NGS Genetic DNA Test
Comprehensive Genetic Analysis for Craniofacial Abnormalities
The FGFR2 Gene Scaphocephaly Maxillary Retrusion and Mental Retardation NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with complex craniofacial syndromes. This specialized test utilizes next-generation sequencing technology to analyze the FGFR2 gene, which plays a critical role in bone development, particularly in skull formation and facial structure.
What This Advanced Genetic Test Measures
Our comprehensive NGS genetic test specifically targets the FGFR2 (Fibroblast Growth Factor Receptor 2) gene, which is essential for proper bone development and cranial suture formation. The test detects:
- Pathogenic variants in the FGFR2 gene associated with craniosynostosis
- Mutations causing scaphocephaly (elongated, narrow skull shape)
- Genetic alterations linked to maxillary retrusion (underdeveloped upper jaw)
- Variants associated with developmental delays and intellectual disabilities
- Both inherited and de novo (new) mutations in the FGFR2 gene
Who Should Consider This Genetic Testing
This specialized genetic test is recommended for individuals presenting with:
- Infants or children with abnormal skull shape, particularly scaphocephaly
- Patients with maxillary hypoplasia or retrusion affecting facial appearance
- Individuals with developmental delays or intellectual disabilities of unknown cause
- Family history of craniosynostosis or similar craniofacial conditions
- Patients with multiple congenital anomalies involving skull and facial bones
- Those requiring surgical planning for craniofacial reconstruction
Clinical Benefits of FGFR2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms genetic basis for craniofacial abnormalities
- Treatment Guidance: Informs surgical planning and timing for craniosynostosis correction
- Prognostic Information: Helps predict developmental outcomes and potential complications
- Genetic Counseling: Provides essential information for family planning decisions
- Early Intervention: Enables timely developmental support and educational planning
- Comprehensive Care: Facilitates multidisciplinary approach involving genetics, neurosurgery, and developmental pediatrics
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your FGFR2 gene analysis:
- Positive Result: Identifies a pathogenic variant in FGFR2 gene, confirming genetic diagnosis and guiding targeted management
- Negative Result: No disease-causing variants detected in FGFR2 gene, suggesting other genetic or environmental factors
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry FGFR2 mutations that could be passed to offspring
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| FGFR2 Gene Scaphocephaly Maxillary Retrusion and Mental Retardation NGS Genetic DNA Test | $700 |
| Discounted Price | $500 |
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure accurate and reliable results with a turnaround time of 3-4 weeks.
Sample Collection and Preparation
This advanced genetic test requires one of the following sample types:
- Blood sample collected by our certified phlebotomists
- Extracted DNA from qualified laboratory sources
- One drop of blood on FTA card for convenient collection
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to discuss testing implications
- Development of detailed pedigree chart documenting family history
- Review of potential benefits and limitations of genetic testing
Take the Next Step in Genetic Diagnosis
Early genetic diagnosis of FGFR2-related conditions can significantly impact treatment outcomes and quality of life. Our team of genetic specialists is ready to provide comprehensive testing and counseling services. Contact us today to schedule your appointment and take the first step toward understanding your genetic health.
Call or WhatsApp: +1(267) 388-9828 to book your FGFR2 genetic test consultation.
Our dedicated genetic counselors will guide you through the testing process, explain results in understandable terms, and connect you with appropriate specialists for comprehensive care management. Don’t wait to get the answers you need for better health outcomes.
