ABCA4 Gene Cone-Rod Dystrophy Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Retinal Disorders
The ABCA4 Gene Cone-Rod Dystrophy Type 3 NGS Genetic DNA Test represents a breakthrough in ophthalmic genetic diagnostics, offering precise detection of mutations associated with inherited retinal dystrophies. This advanced test utilizes state-of-the-art Next-Generation Sequencing technology to analyze the ABCA4 gene, which plays a critical role in retinal function and visual processing.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the ABCA4 gene, which encodes a protein essential for the visual cycle in retinal photoreceptor cells. The test identifies:
- Pathogenic variants in the ABCA4 gene associated with cone-rod dystrophy
- Mutations responsible for Stargardt disease and other inherited retinal disorders
- Genetic variations affecting retinal pigment epithelium function
- Inheritance patterns for genetic counseling purposes
- Risk assessment for family members
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Progressive vision loss starting in childhood or early adulthood
- Difficulty with night vision and dark adaptation
- Color vision abnormalities or decreased color perception
- Central vision loss with preserved peripheral vision
- Family history of inherited retinal disorders
- Unexplained visual deterioration despite normal eye exams
- Photophobia or light sensitivity
- Abnormal retinal findings on ophthalmologic examination
Benefits of Genetic Testing
Undergoing the ABCA4 Gene Cone-Rod Dystrophy Type 3 NGS Genetic DNA Test provides numerous advantages:
- Early Diagnosis: Enables timely intervention before significant vision loss occurs
- Personalized Management: Guides treatment strategies based on specific genetic mutations
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and visual outcomes
- Therapeutic Guidance: Informs eligibility for emerging gene therapies and clinical trials
- Psychological Relief: Reduces uncertainty and provides clarity about the condition
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and ophthalmologists:
- Positive Result: Indicates the presence of pathogenic ABCA4 gene mutations associated with cone-rod dystrophy
- Negative Result: Suggests no detectable mutations in the ABCA4 gene, though other genetic causes may need consideration
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if you carry one copy of a mutated gene that could be passed to offspring
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ABCA4 Gene Cone-Rod Dystrophy Type 3 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) |
| Specialty | Ophthalmology Genetics |
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history documenting visual symptoms and progression
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of affected family members with similar conditions
- Recent ophthalmologic examination findings
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and ophthalmologists ensures you receive 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 ABCA4-related disorders can provide the clarity needed to make informed decisions about your eye care and future. Our team of 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 ABCA4 Gene Cone-Rod Dystrophy Type 3 NGS Genetic DNA Test and take the first step toward understanding your genetic eye health.
