FBN1 Gene Marfan Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Connective Tissue Disorders
The FBN1 Gene Marfan Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for connective tissue disorders. This advanced test utilizes next-generation sequencing (NGS) technology to analyze the FBN1 gene, which encodes fibrillin-1 protein essential for connective tissue integrity. Marfan syndrome is a serious genetic condition affecting approximately 1 in 5,000 individuals worldwide, making accurate diagnosis crucial for proper medical management and prevention of life-threatening complications.
What Does the FBN1 Gene Test Measure?
This comprehensive genetic test specifically targets the FBN1 gene located on chromosome 15, which plays a critical role in producing fibrillin-1 protein. Fibrillin-1 is a fundamental component of microfibrils in connective tissues throughout the body. The test detects:
- Point mutations in the FBN1 gene coding regions
- Small insertions and deletions affecting protein function
- Splice site mutations that disrupt normal protein processing
- Novel genetic variants associated with Marfan syndrome
- Pathogenic mutations affecting connective tissue integrity
Who Should Consider This Genetic Test?
This test is recommended for individuals displaying characteristic symptoms or having risk factors for Marfan syndrome:
- Physical Features: Tall stature, long limbs, arachnodactyly (long fingers), pectus deformities, scoliosis
- Ocular Manifestations: Ectopia lentis (lens dislocation), severe myopia, retinal detachment risk
- Cardiovascular Concerns: Aortic root dilation, mitral valve prolapse, family history of aortic dissection
- Family History: First-degree relatives with confirmed Marfan syndrome or sudden cardiac death
- Unexplained Symptoms: Joint hypermobility, skin striae, pneumothorax without clear cause
Clinical Benefits of FBN1 Genetic Testing
Undergoing FBN1 genetic testing provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out Marfan syndrome with high accuracy
- Early Intervention: Enables proactive management of cardiovascular risks
- Family Planning: Provides genetic counseling information for reproductive decisions
- Treatment Guidance: Informs medication choices and surgical timing
- Risk Assessment: Identifies at-risk family members through cascade testing
- Peace of Mind: Reduces diagnostic uncertainty and anxiety
Understanding Your Test Results
Your FBN1 genetic test results will fall into one of several categories:
- Positive Result: A pathogenic mutation in the FBN1 gene confirms Marfan syndrome diagnosis, requiring comprehensive medical follow-up including cardiology, ophthalmology, and orthopedic care.
- Negative Result: No FBN1 mutation detected, though clinical evaluation remains important as other genetic conditions can mimic Marfan syndrome features.
- Variant of Uncertain Significance (VUS): A genetic change with unclear clinical impact requiring additional family studies and periodic re-evaluation.
- Benign Variant: Common genetic changes not associated with disease risk.
All results include detailed interpretation by board-certified geneticists and genetic counselors to ensure proper understanding and next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | FBN1 Gene Marfan 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
Before scheduling your FBN1 genetic test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to discuss testing implications
- Family pedigree chart creation identifying affected relatives
- Understanding of potential psychological and insurance implications
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about connective tissue disorders affect your quality of life. The FBN1 Gene Marfan Syndrome NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward definitive diagnosis and personalized care.
