UNC119 Gene Cone-Rod Dystrophy NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Retinal Disorders
The UNC119 Gene Cone-Rod Dystrophy NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited retinal diseases. This advanced molecular test utilizes cutting-edge Next Generation Sequencing technology to analyze the UNC119 gene, which plays a critical role in retinal photoreceptor function and survival. Cone-rod dystrophy is a progressive inherited retinal disorder characterized by the degeneration of cone photoreceptors followed by rod photoreceptors, leading to significant visual impairment and potential blindness if left undiagnosed.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets mutations and variations in the UNC119 gene, including:
- Point mutations and single nucleotide variants (SNVs)
- Small insertions and deletions (indels)
- Copy number variations (CNVs)
- Pathogenic variants associated with autosomal recessive cone-rod dystrophy
- Novel genetic alterations affecting retinal function
The test employs state-of-the-art NGS technology that provides high-resolution genetic mapping with exceptional accuracy, enabling precise identification of disease-causing mutations that traditional genetic testing methods might miss.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals experiencing:
- Progressive vision loss beginning in childhood or early adulthood
- Difficulty with color vision and contrast sensitivity
- Photophobia (light sensitivity) and glare problems
- Central vision loss with preserved peripheral vision initially
- Family history of inherited retinal diseases or cone-rod dystrophy
- Abnormal electroretinogram (ERG) results indicating cone-rod dysfunction
- Couples planning pregnancy with known family history of retinal disorders
Clinical Benefits of UNC119 Genetic Testing
Undergoing this genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out UNC119-related cone-rod dystrophy with high precision
- Early Intervention: Enables proactive management strategies before significant vision loss occurs
- Genetic Counseling: Provides essential information for family planning and reproductive decisions
- Personalized Management: Guides ophthalmologists in developing targeted treatment approaches
- Prognostic Information: Helps predict disease progression and visual outcomes
- Clinical Trial Eligibility: May qualify patients for emerging gene therapy and retinal treatment trials
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and ophthalmology specialists:
- Positive Result: Indicates the presence of pathogenic mutations in the UNC119 gene, confirming the diagnosis of cone-rod dystrophy
- Negative Result: Suggests that UNC119 mutations are not the cause of symptoms, though other genetic factors may be involved
- Variant of Uncertain Significance (VUS): Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning decisions
All positive results include comprehensive genetic counseling to help you understand the implications for your health and family members.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
To ensure accurate results and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of affected family members with retinal disorders
- Ophthalmological examination records and test results
Nationwide Testing Availability
We proudly offer the UNC119 Gene Cone-Rod Dystrophy NGS Genetic DNA Test at our state-of-the-art facilities across the United States. Our network includes specialized testing centers in:
- New York City, NY
- Los Angeles, CA
- Chicago, IL
- Houston, TX
- Phoenix, AZ
- Philadelphia, PA
- And all other major metropolitan areas
Each location is equipped with advanced genetic testing technology and staffed by experienced genetic counselors and ophthalmology specialists.
Take Control of Your Eye Health Today
Don’t let uncertainty about your vision health continue. Early genetic diagnosis of cone-rod dystrophy can significantly impact your quality of life and treatment options. Our comprehensive UNC119 genetic testing provides the clarity you need to make informed decisions about your eye care and family planning.
Ready to schedule your test? Contact us today:
Phone: +1(267) 388-9828
WhatsApp: +1(267) 388-9828
Our genetic counseling team is available to answer your questions and help you understand the testing process. Book your appointment now and take the first step toward understanding your genetic risk for inherited retinal diseases.
