TGFBI Gene Corneal Dystrophy Epithelial Basement Membrane NGS Genetic DNA Test
Comprehensive Genetic Testing for Corneal Disorders
The TGFBI Gene Corneal Dystrophy Epithelial Basement Membrane NGS Genetic DNA Test represents a breakthrough in ophthalmic genetic diagnostics. This advanced test specifically targets mutations in the Transforming Growth Factor Beta-Induced (TGFBI) gene, which plays a critical role in maintaining corneal transparency and structural integrity. Corneal dystrophies affecting the epithelial basement membrane can significantly impact vision quality and overall eye health, making early detection and accurate diagnosis essential for effective management.
What This Test Measures and Detects
Our NGS-based genetic test provides comprehensive analysis of the TGFBI gene to identify pathogenic variants associated with various corneal dystrophies:
- Detection of mutations causing epithelial basement membrane dystrophy (EBMD)
- Identification of genetic variants linked to Reis-Bücklers corneal dystrophy
- Analysis of mutations associated with Thiel-Behnke corneal dystrophy
- Screening for variants causing lattice corneal dystrophy types I and IIIA
- Detection of genetic changes responsible for granular corneal dystrophy types I and II
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Recurrent corneal erosions or persistent eye pain
- Progressive vision deterioration or blurred vision
- Family history of corneal dystrophies or inherited eye disorders
- Diagnosis of corneal opacity or stromal abnormalities
- Photophobia (light sensitivity) and foreign body sensation in the eyes
- Previous inconclusive corneal examinations
- Planning for corneal transplant or other surgical interventions
Key Benefits of TGFBI Genetic Testing
Undergoing this comprehensive genetic analysis offers numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of corneal dystrophy type
- Personalized Treatment: Enables tailored management strategies based on specific genetic mutations
- Family Planning: Offers valuable information for genetic counseling and inheritance patterns
- Early Intervention: Facilitates proactive management before significant vision loss occurs
- Disease Progression Monitoring: Helps track condition development and treatment effectiveness
- Surgical Planning: Informs decisions regarding corneal transplantation and other procedures
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our genetic counselors and ophthalmology specialists:
- Positive Result: Indicates the presence of a known pathogenic mutation in the TGFBI gene, confirming genetic predisposition to specific corneal dystrophy
- Negative Result: Suggests absence of common TGFBI mutations, though other genetic or environmental factors may still contribute to symptoms
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unknown clinical implications, requiring further evaluation and family studies
- Carrier Status: Determines if you carry a single copy of a mutation that could be passed to offspring
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
GGC DNA provides comprehensive TGFBI genetic testing services across the United States. We have established testing facilities in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures convenient access to advanced genetic testing regardless of your location.
Take Control of Your Eye Health Today
Don’t let uncertainty about your corneal health affect your quality of life. Our TGFBI Gene Corneal Dystrophy NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare decisions. With results available in 3-4 weeks and comprehensive genetic counseling support, you’ll gain valuable insights into your eye health and inheritance patterns.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic predisposition to corneal disorders and preserving your vision for years to come.
