FGFR1 Gene Pfeiffer Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Pfeiffer Syndrome Detection
The FGFR1 Gene Pfeiffer Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool that utilizes next-generation sequencing technology to identify mutations in the FGFR1 (Fibroblast Growth Factor Receptor 1) gene. This comprehensive genetic analysis is specifically designed to detect the genetic abnormalities responsible for Pfeiffer syndrome, a rare autosomal dominant disorder affecting craniofacial development and skeletal formation.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets and sequences the FGFR1 gene to identify pathogenic variants associated with Pfeiffer syndrome. The test detects:
- Point mutations in the FGFR1 gene coding regions
- Small insertions and deletions affecting gene function
- Specific genetic variants known to cause craniosynostosis
- Mutations affecting fibroblast growth factor receptor signaling
- Genetic changes impacting bone development and cranial suture fusion
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with the following symptoms or family history:
- Newborns or children with craniosynostosis (premature fusion of skull bones)
- Individuals with characteristic facial features including midface hypoplasia
- Patients with broad thumbs and great toes
- Those with partial syndactyly (webbed fingers or toes)
- Individuals with family history of Pfeiffer syndrome or craniosynostosis
- Couples planning pregnancy with known family history of genetic skeletal disorders
- Patients undergoing evaluation for syndromic craniosynostosis
Key Benefits of FGFR1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive genetic confirmation of Pfeiffer syndrome
- Early Intervention: Enables timely medical and surgical management
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides appropriate surgical planning and multidisciplinary care
- Prognostic Information: Helps predict disease severity and potential complications
- Genetic Counseling: Facilitates informed decision-making for affected families
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your FGFR1 gene test results:
- Positive Result: Indicates the presence of a pathogenic FGFR1 mutation, confirming Pfeiffer syndrome diagnosis
- Negative Result: Suggests absence of detectable FGFR1 mutations, though clinical evaluation remains important
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Provides information about inheritance patterns and recurrence risks
All results are accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Specialty: Pediatrics and Genetics
- Department: Genetics
- Method: NGS Technology
- Disease Type: Dysmorphology
Pre-Test Requirements
Before undergoing the FGFR1 Gene Pfeiffer Syndrome NGS Genetic DNA Test, patients should provide:
- Complete clinical history of the patient
- Participation in a genetic counseling session
- Development of a pedigree chart documenting family members affected with FGFR1-related conditions
- Detailed documentation of physical examination findings
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need for proper diagnosis and treatment planning. Our team of genetic specialists is ready to guide you through the testing process and provide comprehensive support.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic counseling session and book your FGFR1 Gene Pfeiffer Syndrome NGS Genetic DNA Test. Take the first step toward understanding your genetic health and making informed medical decisions for you and your family.
