FGFR1 Gene Jackson-Weiss Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Craniosynostosis and Skeletal Abnormalities
The FGFR1 Gene Jackson-Weiss Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool in medical genetics, specifically designed to identify mutations in the FGFR1 (Fibroblast Growth Factor Receptor 1) gene associated with Jackson-Weiss syndrome. This autosomal dominant condition is characterized by craniosynostosis (premature fusion of skull bones), foot abnormalities, and distinctive facial features. Our advanced NGS technology provides comprehensive analysis of the FGFR1 gene, offering crucial diagnostic information for patients and families affected by this rare genetic disorder.
What Does This Test Measure and Detect?
This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the FGFR1 gene for pathogenic variants. The test specifically detects:
- Point mutations in the FGFR1 gene coding regions
- Small insertions and deletions affecting protein function
- Missense mutations associated with Jackson-Weiss syndrome
- Genetic variations affecting FGFR1 receptor signaling pathways
- Mutations known to cause abnormal bone development and craniosynostosis
The FGFR1 gene plays a critical role in bone development, particularly in skull formation and limb patterning. Mutations in this gene disrupt normal skeletal development, leading to the characteristic features of Jackson-Weiss syndrome.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with the following symptoms or family history:
- Infants or children with craniosynostosis (premature skull fusion)
- Individuals with abnormal skull shape or facial features
- Patients with broad great toes or foot abnormalities
- Those with syndactyly (fused fingers or toes)
- Individuals with family history of Jackson-Weiss syndrome
- Patients with unexplained skeletal abnormalities
- Couples planning pregnancy with family history of craniosynostosis
Clinical Benefits of FGFR1 Genetic Testing
Undergoing the FGFR1 Gene Jackson-Weiss Syndrome NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Jackson-Weiss syndrome with high precision
- Treatment Planning: Guides appropriate surgical interventions for craniosynostosis
- Genetic Counseling: Provides essential information for family planning decisions
- Early Intervention: Enables timely management of skeletal complications
- Family Risk Assessment: Identifies at-risk family members for preventive monitoring
- Differential Diagnosis: Helps distinguish Jackson-Weiss syndrome from other craniosynostosis conditions
Understanding Your Test Results
Your FGFR1 genetic test results will fall into one of several categories:
- Positive Result: Indicates a pathogenic mutation in the FGFR1 gene, confirming Jackson-Weiss syndrome diagnosis
- Negative Result: No mutation detected, though clinical evaluation remains important
- Variant of Uncertain Significance: A genetic change with unclear clinical implications requiring further evaluation
- Carrier Status: Important information for family planning and genetic counseling
All results are accompanied by comprehensive interpretation from our board-certified genetic specialists. We recommend discussing results with your healthcare provider and genetic counselor to fully understand implications for your health and family.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | FGFR1 Gene Jackson-Weiss 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) |
Pre-Test Requirements
Before scheduling your FGFR1 genetic test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to discuss testing implications
- Development of a detailed family pedigree chart
- Discussion of potential outcomes and their meanings
- Understanding of insurance coverage and financial considerations
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 collection centers ensures accessible testing regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. The FGFR1 Gene Jackson-Weiss Syndrome NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. Our team of genetic specialists is ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your genetic health journey.
Early genetic testing can make a significant difference in managing Jackson-Weiss syndrome and planning appropriate medical interventions. Trust our expertise in genetic diagnostics to provide you with accurate, reliable results and comprehensive support throughout your testing experience.
