FLNB Gene Spondylocarpotarsal Synostosis Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Skeletal Disorders
The FLNB Gene Spondylocarpotarsal Synostosis Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare skeletal conditions. This advanced Next-Generation Sequencing (NGS) test specifically targets mutations in the FLNB (Filamin B) gene, which plays a critical role in skeletal development and bone formation. Understanding your genetic profile through this test provides essential information for accurate diagnosis, personalized treatment planning, and informed family decisions.
What Does This Test Measure and Detect?
This comprehensive genetic analysis detects specific mutations in the FLNB gene that are responsible for spondylocarpotarsal synostosis syndrome (SCT). The test examines:
- Point mutations, deletions, and insertions in the FLNB gene
- Genetic variations affecting filamin B protein function
- Autosomal dominant inheritance patterns
- Specific mutations associated with vertebral and limb abnormalities
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Congenital vertebral fusion and spinal abnormalities
- Carpal and tarsal bone coalition (fusion)
- Short stature with disproportionate limb development
- Family history of skeletal dysplasia or bone fusion disorders
- Unexplained skeletal abnormalities detected in childhood
- Previous inconclusive skeletal imaging results
Clinical Benefits of FLNB Genetic Testing
Undergoing this genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out spondylocarpotarsal synostosis syndrome
- Treatment Guidance: Informs orthopedic and surgical management decisions
- Family Planning: Provides essential information for genetic counseling
- Early Intervention: Enables proactive management of skeletal complications
- Peace of Mind: Reduces diagnostic uncertainty for patients and families
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates the presence of FLNB gene mutation associated with SCT syndrome
- Negative Result: Suggests absence of tested FLNB mutations, though other genetic factors may be considered
- Variant of Unknown Significance: Requires additional clinical correlation and family studies
- Carrier Status: Important information for family members and reproductive planning
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | FLNB Gene Spondylocarpotarsal Synostosis Syndrome NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session prior to testing
- Family pedigree chart development
- Review of previous imaging and diagnostic studies
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, and San Jose. Our network of certified genetic counselors and medical professionals ensures you receive comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about skeletal abnormalities affect your quality of life. Our FLNB genetic testing provides the answers you need for informed medical decisions and family planning. With our discounted pricing and comprehensive genetic counseling services, you can access world-class genetic diagnostics at an affordable cost.
Ready to schedule your 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 clarity.
