RDH5 Gene Fundus Albipunctatus NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Retinal Disorders
The RDH5 Gene Fundus Albipunctatus NGS Genetic DNA Test represents a breakthrough in ophthalmological genetic diagnostics, offering precise detection of mutations responsible for fundus albipunctatus. This rare inherited retinal condition affects the visual cycle and can significantly impact quality of life through progressive night blindness and visual impairment.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based analysis specifically targets the RDH5 gene, which encodes the enzyme 11-cis retinol dehydrogenase. This crucial enzyme plays a vital role in the visual cycle by converting 11-cis retinol to 11-cis retinal in retinal pigment epithelial cells. The test identifies:
- Point mutations and small insertions/deletions in the RDH5 gene
- Compound heterozygous and homozygous mutations
- Novel genetic variants affecting retinal function
- Specific mutations associated with delayed dark adaptation
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals experiencing:
- Progressive night blindness (nyctalopia) beginning in childhood
- Delayed dark adaptation requiring extended time to adjust to low light
- Family history of inherited retinal disorders
- Characteristic white dot lesions observed during retinal examination
- Unexplained visual field defects or reduced visual acuity
- Suspected fundus albipunctatus based on clinical presentation
Significant Benefits of Genetic Testing
Undergoing the RDH5 Gene Fundus Albipunctatus NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out genetic causes of retinal symptoms
- Family Planning Guidance: Provides essential information for genetic counseling
- Personalized Management: Enables tailored treatment and monitoring strategies
- Early Intervention: Facilitates proactive management of visual symptoms
- Peace of Mind: Reduces uncertainty about inherited conditions
- Research Contribution: Advances understanding of retinal genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Indicates identified RDH5 gene mutations consistent with fundus albipunctatus. This confirms the genetic basis of symptoms and enables targeted management.
- Negative Result: Suggests that RDH5 gene mutations are not the cause of symptoms, guiding further diagnostic evaluation.
- Variant of Uncertain Significance: Identifies genetic changes requiring additional clinical correlation and possible family studies.
All results are accompanied by detailed interpretation from our certified genetic counselors and ophthalmology specialists.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | RDH5 Gene Fundus Albipunctatus 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
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 collection centers ensures accessible genetic testing for patients nationwide.
Take Control of Your Eye Health Today
Don’t let uncertainty about inherited retinal conditions affect your quality of life. Our RDH5 Gene Fundus Albipunctatus NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. Schedule your genetic counseling session and testing appointment today to begin your journey toward comprehensive eye health management.
Call or WhatsApp us now at +1(267) 388-9828 to book your RDH5 genetic test and take the first step toward understanding your retinal health.
