FGFR2 Gene Apert Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Apert Syndrome
The FGFR2 Gene Apert Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for craniofacial disorders. This advanced genetic analysis utilizes cutting-edge Next Generation Sequencing technology to identify specific mutations in the FGFR2 (Fibroblast Growth Factor Receptor 2) gene that cause Apert syndrome, a rare genetic condition characterized by premature fusion of skull bones and distinctive facial features.
What Does This Test Detect?
This comprehensive genetic test specifically targets mutations in the FGFR2 gene, particularly focusing on two common missense mutations (Ser252Trp and Pro253Arg) that account for approximately 98% of Apert syndrome cases. The test examines:
- Specific point mutations in FGFR2 exons IIIa and IIIc
- Genetic variations affecting fibroblast growth factor receptor signaling
- Mutations causing abnormal bone development and premature suture fusion
- Genetic markers associated with syndactyly and craniofacial abnormalities
Who Should Consider This Test?
This genetic test is recommended for individuals displaying characteristic features of Apert syndrome or those with a family history of craniofacial disorders:
- Infants and children with premature fusion of skull sutures (craniosynostosis)
- Individuals with syndactyly (fused fingers or toes)
- Patients with midface hypoplasia and protruding eyes
- Children with developmental delays and characteristic facial features
- Families with history of Apert syndrome or similar craniofacial conditions
- Couples planning pregnancy with family history of genetic disorders
Clinical Benefits of Genetic Testing
Undergoing the FGFR2 Gene Apert Syndrome NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Apert syndrome with high precision
- Treatment Planning: Guides surgical interventions and medical management
- Genetic Counseling: Provides essential information for family planning decisions
- Early Intervention: Enables timely medical and surgical treatments
- Prognostic Information: Helps predict potential complications and outcomes
- Family Risk Assessment: Identifies inheritance patterns and recurrence risks
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our board-certified genetic specialists:
- Positive Result: Indicates presence of FGFR2 mutation consistent with Apert syndrome diagnosis
- Negative Result: Suggests absence of common FGFR2 mutations associated with Apert syndrome
- Variant of Uncertain Significance: Requires additional clinical correlation and family studies
- Carrier Status: Identifies individuals who may pass the condition to offspring
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| FGFR2 Gene Apert Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| FGFR2 Gene Apert Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next Generation Sequencing (NGS) Technology
- Specialty: Pediatric Genetics
- Department: Genetics
- Disease Category: Dysmorphology
Pre-Test Requirements
Before scheduling your FGFR2 Gene Apert Syndrome NGS Genetic DNA Test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree chart
- Documentation of affected family members with similar conditions
- Recent clinical examination findings
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving 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.
Schedule Your Genetic Test Today
Take the first step toward accurate diagnosis and comprehensive care. Our experienced genetic counselors and pediatric specialists are ready to assist you through every step of the testing process. Contact us today to schedule your FGFR2 Gene Apert Syndrome NGS Genetic DNA Test and receive the answers you need for informed medical decisions.
Call or WhatsApp: +1(267) 388-9828
Our genetic testing specialists are available to answer your questions, discuss insurance coverage options, and help you schedule your appointment at a location convenient for you.
