FBN1 Gene Weill-Marchesani Syndrome Dominant Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Weill-Marchesani Syndrome
The FBN1 Gene Weill-Marchesani Syndrome Dominant Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with this rare connective tissue disorder. Weill-Marchesani syndrome is characterized by distinctive physical features including short stature, brachydactyly (short fingers), joint stiffness, and ocular abnormalities such as microspherophakia and lens dislocation.
What This Advanced Genetic Test Detects
This specialized NGS (Next-Generation Sequencing) test specifically analyzes the FBN1 gene, which encodes the fibrillin-1 protein essential for connective tissue formation and elasticity. The test identifies:
- Pathogenic variants in the FBN1 gene responsible for Weill-Marchesani syndrome type 2
- Single nucleotide variants (SNVs) and small insertions/deletions
- Autosomal dominant inheritance pattern mutations
- Genetic markers associated with connective tissue abnormalities
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Unexplained short stature with normal intelligence
- Brachydactyly and joint stiffness limiting mobility
- Ocular abnormalities including lens dislocation or glaucoma
- Family history of connective tissue disorders
- Characteristic facial features associated with Weill-Marchesani syndrome
- Cardiac abnormalities potentially related to connective tissue issues
Significant Benefits of Genetic Testing
Medical and Personal Advantages
Undergoing the FBN1 genetic test provides numerous benefits:
- Accurate Diagnosis: Confirms or rules out Weill-Marchesani syndrome type 2
- Family Planning Guidance: Assesses inheritance risks for future generations
- Personalized Medical Management: Enables targeted treatment approaches
- Early Intervention: Facilitates proactive management of potential complications
- Genetic Counseling Support: Provides comprehensive family risk assessment
Understanding Your Test Results
Interpreting Genetic Findings
Your test results will be carefully analyzed and explained by our genetic specialists:
- Positive Result: Indicates the presence of a pathogenic FBN1 mutation, confirming Weill-Marchesani syndrome type 2 diagnosis
- Negative Result: Suggests absence of detectable FBN1 mutations, though clinical evaluation remains important
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines inheritance patterns for family members
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | FBN1 Gene Weill-Marchesani Syndrome Dominant Type 2 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 |
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 other cities. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our specialized FBN1 genetic testing provides the clarity needed for informed medical decisions and family planning. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class diagnostic services without financial burden.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your family’s future.
