FGFR2 Gene Pfeiffer Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Craniosynostosis Disorders
The FGFR2 Gene Pfeiffer Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the fibroblast growth factor receptor 2 (FGFR2) gene, which are responsible for Pfeiffer syndrome. This rare genetic disorder affects approximately 1 in 100,000 individuals and is characterized by premature fusion of skull bones (craniosynostosis), distinctive facial features, and abnormalities in hands and feet. Our advanced next-generation sequencing technology provides comprehensive analysis of the FGFR2 gene, offering unparalleled accuracy in detecting pathogenic variants that cause this complex condition.
What Does This Test Measure and Detect?
This specialized genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the entire FGFR2 gene for mutations associated with Pfeiffer syndrome. The test specifically detects:
- Point mutations in the FGFR2 gene coding regions
- Small insertions and deletions affecting protein function
- Pathogenic variants in exons and splice sites
- Known and novel mutations affecting FGFR2 protein structure
- Genetic changes that disrupt normal bone development signaling
The FGFR2 gene plays a critical role in bone development, particularly in skull formation and limb patterning. Mutations in this gene lead to abnormal activation of fibroblast growth factor signaling pathways, resulting in premature fusion of cranial sutures and characteristic skeletal abnormalities.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with clinical features suggestive of Pfeiffer syndrome or related craniosynostosis disorders:
- Infants and children with craniosynostosis (premature skull fusion)
- Individuals with distinctive facial features including high forehead, bulging eyes, and underdeveloped midface
- Patients with broad, deviated thumbs and great toes
- Partial syndactyly (webbing) of fingers and toes
- Family history of craniosynostosis or skeletal abnormalities
- Unexplained developmental delays with characteristic physical features
- Pregnant women with abnormal prenatal ultrasound findings suggesting skeletal dysplasia
Clinical Benefits of FGFR2 Genetic Testing
Undergoing FGFR2 genetic testing provides numerous clinical advantages for patients and their families:
- Definitive Diagnosis: Confirms or rules out Pfeiffer syndrome with high accuracy
- Treatment Planning: Guides surgical interventions and medical management strategies
- Genetic Counseling: Provides accurate recurrence risk information for family planning
- Early Intervention: Enables timely multidisciplinary care involving neurosurgeons, craniofacial specialists, and geneticists
- Prognostic Information: Helps predict disease severity and potential complications
- Family Screening: Identifies at-risk relatives who may benefit from monitoring
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your FGFR2 test results:
- Positive Result: Indicates the presence of a pathogenic FGFR2 mutation confirming Pfeiffer syndrome diagnosis. This result provides crucial information for medical management and family planning.
- Negative Result: Suggests that no disease-causing mutations were detected in the FGFR2 gene. However, clinical correlation is essential as other genetic causes of craniosynostosis may be present.
- Variant of Uncertain Significance: Some genetic changes may have unknown clinical implications. Our genetic counselors provide guidance on monitoring and further testing when needed.
- Carrier Status: Identifies individuals who carry the mutation but may not show symptoms, important for family planning decisions.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| FGFR2 Gene Pfeiffer Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| FGFR2 Gene Pfeiffer Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-test Requirements: Clinical history and genetic counseling session to create family pedigree chart
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas 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 specialized laboratories ensures consistent, high-quality testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your family’s future. Our FGFR2 Gene Pfeiffer Syndrome NGS Genetic DNA Test provides the clarity you need for informed medical decisions and comprehensive care planning. With our specialized expertise in dysmorphology and genetic disorders, we offer unparalleled support throughout your diagnostic journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your FGFR2 genetic test. Our compassionate team is ready to guide you through every step of the process, from initial consultation to result interpretation and beyond.
