FBN1 Gene MASS Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Connective Tissue Health
The FBN1 Gene MASS Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for connective tissue disorders. This advanced test specifically targets mutations in the FBN1 gene, which plays a critical role in the formation and maintenance of connective tissues throughout the body. MASS syndrome, while sharing some features with Marfan syndrome, presents unique clinical characteristics that require specialized genetic analysis for accurate diagnosis and management.
What Does This Test Measure and Detect?
Our FBN1 Gene MASS Syndrome test utilizes cutting-edge Next Generation Sequencing (NGS) technology to comprehensively analyze the entire FBN1 gene. This sophisticated approach enables us to detect:
- Point mutations and single nucleotide variants in the FBN1 gene
- Small insertions and deletions that may disrupt protein function
- Missense mutations affecting fibrillin-1 protein structure
- Nonsense mutations leading to premature stop codons
- Splice site variants that impact gene expression
The test specifically identifies genetic variations associated with MASS syndrome phenotype, which includes Mitral valve prolapse, Aortic root dilation, Skeletal changes, and Skin findings – the characteristic features that define this connective tissue disorder.
Who Should Consider This Genetic Test?
This comprehensive genetic analysis is recommended for individuals presenting with:
- Family history of connective tissue disorders or MASS syndrome
- Unexplained skeletal abnormalities or joint hypermobility
- Mitral valve prolapse detected during cardiac evaluation
- Mild aortic root dilation without other Marfan syndrome features
- Characteristic skin findings including striae or soft, velvety skin texture
- Tall stature with disproportionate limb length
- Myopia or other vision concerns without clear etiology
- Children with developmental concerns related to connective tissue function
Clinical Benefits of FBN1 Genetic Testing
Early detection through FBN1 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Differentiate MASS syndrome from other connective tissue disorders with overlapping symptoms
- Personalized Management: Develop targeted monitoring and treatment plans based on specific genetic findings
- Family Planning Guidance: Understand inheritance patterns and recurrence risks for future generations
- Preventive Care: Implement early interventions to manage potential cardiovascular and skeletal complications
- Psychological Relief: Provide clarity and reduce diagnostic uncertainty for patients and families
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your FBN1 test results:
- Positive Result: Indicates the presence of a pathogenic FBN1 mutation associated with MASS syndrome. This result enables targeted medical management and family screening.
- Negative Result: Suggests that no disease-causing mutations were detected in the FBN1 gene, though clinical follow-up may still be recommended based on symptoms.
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications, requiring ongoing monitoring and potential family studies.
All results are accompanied by detailed explanations and recommendations from our board-certified genetic counselors to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| FBN1 Gene MASS Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| FBN1 Gene MASS Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient 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. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about connective tissue health concerns affect your quality of life. Our FBN1 Gene MASS Syndrome NGS Genetic DNA Test provides the clarity and information needed for informed healthcare decisions. With results available in just 3-4 weeks and multiple sample collection options (blood, extracted DNA, or blood spot cards), getting tested has never been more convenient.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are available to answer your questions and guide you through the testing process with compassion and expertise.
Remember: Early detection through genetic testing can lead to better management outcomes and improved quality of life for individuals with connective tissue disorders. Take the first step toward understanding your genetic health today.
