SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Corneal Disorders
The SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 NGS Genetic DNA Test represents a breakthrough in ophthalmic genetic diagnostics, offering precise detection of mutations associated with corneal endothelial dystrophy type 2. This progressive inherited eye condition affects the corneal endothelium—the innermost layer of the cornea responsible for maintaining corneal clarity and hydration balance.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based genetic analysis specifically targets the SLC4A11 gene, which encodes a bicarbonate transporter protein essential for corneal endothelial function. The test identifies:
- Pathogenic variants in the SLC4A11 gene associated with corneal endothelial dystrophy type 2
- Single nucleotide polymorphisms (SNPs) affecting gene function
- Insertion/deletion mutations impacting protein structure
- Copy number variations that may contribute to disease severity
- Novel genetic variants with potential clinical significance
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals experiencing:
- Progressive vision blurring or clouding without apparent cause
- Family history of corneal dystrophies or inherited eye disorders
- Early-onset corneal edema or swelling
- Unexplained photophobia (light sensitivity)
- Glare symptoms, especially at night
- Reduced visual acuity despite corrective lenses
- Planning pregnancy with known family history of corneal disorders
- Diagnostic confirmation for suspected corneal endothelial dystrophy
Significant Benefits of Genetic Testing
Undergoing the SLC4A11 genetic test provides numerous advantages for patients and their families:
- Early Intervention Opportunities: Detect genetic predisposition before significant vision loss occurs
- Personalized Treatment Planning: Guide ophthalmologists in developing targeted management strategies
- Family Planning Guidance: Inform reproductive decisions with accurate genetic risk assessment
- Proactive Monitoring: Enable regular surveillance for at-risk family members
- Psychological Relief: Provide clarity and reduce uncertainty about inherited conditions
- Research Contribution: Support ongoing studies in ophthalmic genetics and treatment development
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results effectively:
- Positive Result: Indicates presence of pathogenic SLC4A11 variants; requires consultation with ophthalmology specialists for management planning
- Negative Result: Suggests absence of tested mutations; however, continued monitoring may be recommended based on clinical presentation
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact; may require additional family studies
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning considerations
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | SLC4A11 Gene Corneal Endothelial Dystrophy 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 Accessibility
GGC DNA maintains comprehensive testing facilities across the United States, with specialized centers in 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 services regardless of your location.
Take Control of Your Eye Health Today
Don’t let uncertainty about inherited eye conditions affect your vision and quality of life. Our expert genetic counselors and ophthalmology specialists are ready to guide you through the testing process and help you understand your results. Early detection through genetic testing can significantly impact treatment outcomes and preserve vision.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your SLC4A11 genetic test consultation and take the first step toward comprehensive eye health management.
Our dedicated team provides pre-test genetic counseling to discuss your family history, create detailed pedigree charts, and ensure you’re fully informed about the testing process and potential outcomes. We work closely with your ophthalmologist to integrate genetic findings into your overall eye care strategy.
