CYP4V2 Gene Bietti Crystalline Corneoretinal Dystrophy NGS Genetic DNA Test
Understanding Bietti Crystalline Corneoretinal Dystrophy
Bietti crystalline corneoretinal dystrophy is a rare inherited retinal disorder characterized by the presence of crystalline deposits in the cornea and retina, leading to progressive vision loss. This condition primarily affects the retinal pigment epithelium and choroid, causing gradual deterioration of central and peripheral vision. The CYP4V2 gene plays a crucial role in lipid metabolism within ocular tissues, and mutations in this gene are responsible for the development of this debilitating eye condition.
What This Advanced Genetic Test Detects
Our comprehensive NGS genetic DNA test specifically analyzes the CYP4V2 gene to identify pathogenic variants associated with Bietti crystalline corneoretinal dystrophy. The test utilizes cutting-edge next-generation sequencing technology to examine:
- Complete coding regions of the CYP4V2 gene
- Exon-intron boundaries for splice site mutations
- Known pathogenic variants and novel mutations
- Copy number variations affecting gene function
Who Should Consider This Genetic Test?
This test is recommended for individuals experiencing symptoms suggestive of inherited retinal dystrophies, including:
- Progressive vision loss beginning in adolescence or early adulthood
- Difficulty with night vision and dark adaptation
- Presence of crystalline deposits in retinal examinations
- Family history of inherited retinal disorders
- Unexplained visual field defects
- Photophobia and glare sensitivity
- Abnormal electroretinogram (ERG) results
Clinical Benefits of Genetic Testing
Undergoing CYP4V2 genetic testing provides numerous clinical advantages for patients and their families:
- Accurate Diagnosis: Confirms or rules out Bietti crystalline corneoretinal dystrophy
- Prognostic Information: Helps predict disease progression and visual outcomes
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Personalized Management: Guides appropriate surveillance and intervention strategies
- Clinical Trial Eligibility: Identifies patients for emerging treatment studies
- Psychological Relief: Provides clarity and reduces diagnostic uncertainty
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your test results effectively:
- Positive Result: Indicates the presence of pathogenic CYP4V2 mutations confirming diagnosis
- Negative Result: Suggests alternative causes for retinal symptoms requiring further evaluation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals at risk of passing the condition to offspring
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | CYP4V2 Gene Bietti Crystalline Corneoretinal Dystrophy NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Specialty | Ophthalmology Genetics |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure accurate results and comprehensive care, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our specialists
- Family pedigree analysis for inheritance patterns
- Ophthalmological examination findings
- Informed consent for genetic testing
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, San Jose, and many more. 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 create unnecessary anxiety. Our CYP4V2 genetic testing provides the clarity you need to make informed decisions about your eye care and future. Early genetic diagnosis can significantly impact management strategies and quality of life outcomes.
Ready to schedule your genetic test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic risk and preserving your vision for years to come.
