FGFR2 Gene Beare-Stevenson Cutis Gyrata Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Genetic Disorders
The FGFR2 Gene Beare-Stevenson Cutis Gyrata Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. This specialized genetic test utilizes next-generation sequencing (NGS) technology to provide comprehensive analysis of the FGFR2 gene, which plays a critical role in skeletal development, skin formation, and cellular signaling pathways.
What This Test Measures and Detects
This advanced genetic test specifically targets and analyzes the FGFR2 gene for mutations associated with Beare-Stevenson cutis gyrata syndrome, a rare autosomal dominant genetic disorder. The test detects:
- Point mutations in the FGFR2 gene coding regions
- Insertions and deletions affecting gene function
- Specific pathogenic variants linked to craniosynostosis
- Genetic alterations causing cutis gyrata (furrowed skin)
- Mutations associated with acanthosis nigricans development
- Variants affecting tyrosine kinase domain functionality
Who Should Consider This Genetic Test
This comprehensive genetic evaluation is recommended for individuals presenting with:
- Newborns or children with craniosynostosis (premature skull fusion)
- Individuals with characteristic furrowed or corrugated skin (cutis gyrata)
- Patients displaying acanthosis nigricans (dark, thickened skin patches)
- Those with craniofacial abnormalities including cloverleaf skull deformity
- Individuals with a family history of Beare-Stevenson syndrome
- Patients with developmental delays and multiple congenital anomalies
- Individuals with ocular proptosis (bulging eyes) and ear abnormalities
Clinical Benefits of Genetic Testing
Undergoing the FGFR2 genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Beare-Stevenson syndrome with high precision
- Treatment Guidance: Informs surgical planning for craniosynostosis correction
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Enables proactive management of associated complications
- Differential Diagnosis: Helps distinguish from other craniosynostosis syndromes
- Prognostic Information: Offers insights into potential disease progression and outcomes
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists:
- Positive Result: Indicates the presence of a pathogenic FGFR2 mutation, confirming Beare-Stevenson syndrome diagnosis
- Negative Result: Suggests absence of known FGFR2 mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines inheritance patterns and recurrence risks for family members
All positive results include detailed interpretation and recommendations for follow-up care, specialist consultations, and ongoing management strategies.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | FGFR2 Gene Beare-Stevenson Cutis Gyrata 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) Technology |
Pre-Test Requirements
Before scheduling your genetic test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session scheduled to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Relevant medical records and previous diagnostic test results
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network of certified collection facilities ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our comprehensive FGFR2 genetic testing provides the answers you need for informed medical care and family planning. With advanced NGS technology and expert genetic counseling support, we deliver reliable results you can trust.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health with confidence and precision.
