OAT Gene Gyrate Atrophy of Choroid and Retina with or without Ornithinemia NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Retinal Disorders
The OAT Gene Gyrate Atrophy NGS Genetic DNA Test represents a breakthrough in ophthalmic genetic diagnostics, offering precise detection of mutations in the ornithine aminotransferase (OAT) gene. This specialized test plays a crucial role in identifying individuals at risk for gyrate atrophy, a rare inherited retinal disorder characterized by progressive vision loss and potential metabolic complications.
What Does This Test Measure?
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the OAT gene for pathogenic variants. The test specifically detects:
- Mutations in the OAT gene responsible for gyrate atrophy
- Genetic variants associated with ornithine accumulation
- Inheritance patterns of retinal degeneration disorders
- Risk assessment for progressive choroidal and retinal atrophy
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Progressive vision loss, particularly peripheral vision deterioration
- Night blindness or difficulty adapting to low light conditions
- Family history of inherited retinal disorders
- Diagnosed with gyrate atrophy seeking genetic confirmation
- Elevated ornithine levels in blood tests
- Children with suspected inherited retinal conditions
Clinical Benefits of Genetic Testing
Early detection through genetic testing provides numerous advantages:
- Accurate diagnosis enabling targeted treatment approaches
- Family planning guidance through genetic counseling
- Early intervention strategies to preserve vision
- Personalized dietary and therapeutic recommendations
- Comprehensive understanding of disease progression
- Access to specialized ophthalmic care and monitoring
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and ophthalmologists:
- Positive Result: Indicates the presence of OAT gene mutations, confirming gyrate atrophy diagnosis and enabling proactive management
- Negative Result: Suggests absence of known pathogenic variants, though clinical monitoring may still be recommended
- Variant of Uncertain Significance: Requires further evaluation and possibly additional family member testing
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Details and Pricing
| Test Name | Discount Price | Regular Price | Turnaround Time | Sample Type |
|---|---|---|---|---|
| OAT Gene Gyrate Atrophy NGS Genetic DNA Test | $500 USD | $700 USD | 3-4 Weeks | Blood, Extracted DNA, or Blood on FTA Card |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and next steps
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network of certified genetic counselors and ophthalmology specialists ensures comprehensive care regardless of your location.
Take Control of Your Eye Health Today
Don’t let uncertainty about your vision health continue. Early genetic testing for OAT gene mutations can provide clarity, guide treatment decisions, and help preserve your vision. Our team of genetic specialists and ophthalmologists are ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your genetic risk for retinal disorders.

