RAX2 Gene Cone-Rod Dystrophy Type 11 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Retinal Disorders
The RAX2 Gene Cone-Rod Dystrophy Type 11 NGS Genetic DNA Test represents a breakthrough in ophthalmic genetic diagnostics, providing precise identification of mutations in the RAX2 gene associated with cone-rod dystrophy type 11. This progressive inherited retinal disorder affects both cone and rod photoreceptor cells, leading to significant vision impairment and potential blindness if left undiagnosed.
What Does This Test Measure?
Our advanced NGS genetic test specifically targets and analyzes the RAX2 gene, which plays a crucial role in retinal development and function. The test detects:
- Point mutations and single nucleotide variants in the RAX2 gene
- Small insertions and deletions affecting gene function
- Pathogenic variants associated with cone-rod dystrophy type 11
- Genetic markers indicating disease progression risk
- Inheritance patterns for family planning considerations
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Progressive vision loss beginning in childhood or early adulthood
- Difficulty with night vision and dark adaptation
- Decreased visual acuity that cannot be corrected with glasses
- Abnormal color vision perception
- Photophobia (light sensitivity)
- Central vision loss with peripheral vision preservation
- Family history of inherited retinal diseases
- Unexplained visual field defects
Clinical Benefits of Genetic Testing
Early genetic diagnosis through our RAX2 test provides numerous advantages:
- Accurate Diagnosis: Confirms cone-rod dystrophy type 11 versus other retinal conditions
- Personalized Management: Enables tailored treatment and monitoring strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Clinical Trial Access: Opens opportunities for emerging therapies and research participation
- Prognostic Information: Helps predict disease progression and visual outcomes
- Early Intervention: Allows for timely implementation of vision preservation strategies
Understanding Your Test Results
Our comprehensive genetic report includes:
- Positive Result: Indicates the presence of pathogenic RAX2 mutations, confirming cone-rod dystrophy type 11 diagnosis
- Negative Result: Suggests absence of known RAX2 mutations, though other genetic causes may be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of the mutated gene
All results are accompanied by detailed interpretation and recommendations from our certified genetic counselors.
Test Specifications and Pricing
| Test Feature | Details |
|---|---|
| Test Name | RAX2 Gene Cone-Rod Dystrophy Type 11 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 |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to discuss implications and create family pedigree
- Understanding of potential outcomes and their significance
- Informed consent for genetic testing
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing regardless of your location.
Take Control of Your Vision Health Today
Don’t let uncertainty about your vision symptoms cause unnecessary anxiety. Our RAX2 Gene Cone-Rod Dystrophy Type 11 NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. Early genetic diagnosis can significantly impact your quality of life and treatment options.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your vision health.
Our team of genetic specialists and ophthalmology experts is ready to guide you through the testing process, answer your questions, and provide the comprehensive care you deserve. Book your appointment today and gain the genetic insights that could preserve your vision for years to come.
