PRPH2 Gene Fundus Albipunctatus NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Retinal Disorders
The PRPH2 Gene Fundus Albipunctatus NGS Genetic DNA Test represents a breakthrough in ophthalmic genetic diagnostics, offering precise identification of mutations in the PRPH2 gene responsible for fundus albipunctatus. This rare inherited retinal condition affects the photoreceptor cells in the retina, leading to significant visual impairment and night blindness. Our advanced testing methodology provides patients and healthcare providers with definitive diagnostic information crucial for effective management and treatment planning.
What Does This Test Measure?
This comprehensive genetic test specifically targets the PRPH2 (Peripherin-2) gene, which plays a critical role in maintaining the structural integrity of photoreceptor outer segments. The test utilizes Next-Generation Sequencing technology to:
- Detect pathogenic variants in the PRPH2 gene
- Identify specific mutations associated with fundus albipunctatus
- Analyze the entire coding region and splice sites of the PRPH2 gene
- Provide comprehensive genetic profiling for accurate diagnosis
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing symptoms suggestive of fundus albipunctatus or those with a family history of inherited retinal disorders. Key indications include:
- Persistent night blindness (nyctalopia) from childhood
- Delayed dark adaptation when moving from bright to dim environments
- Presence of characteristic white dot lesions in the retina
- Family history of inherited retinal diseases
- Progressive visual field defects
- Unexplained visual impairment in childhood or early adulthood
Clinical Benefits of Genetic Testing
Undergoing the PRPH2 Gene Fundus Albipunctatus NGS Genetic DNA Test offers numerous advantages for patients and their families:
- Definitive Diagnosis: Provides conclusive genetic confirmation of fundus albipunctatus
- Personalized Treatment: Enables targeted management strategies based on genetic findings
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of vision preservation strategies
- Prognostic Information: Helps predict disease progression and visual outcomes
- Research Participation: May qualify patients for clinical trials and emerging therapies
Understanding Your Test Results
Our comprehensive genetic counseling services help patients understand their test results and implications:
- Positive Result: Confirms the presence of PRPH2 gene mutation associated with fundus albipunctatus
- Negative Result: Indicates no detectable mutation in the PRPH2 gene, though other genetic causes may be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry the mutation without showing symptoms
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | PRPH2 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 |
Pre-Test Requirements
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Ophthalmological examination findings
Nationwide Accessibility
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, and San Jose. Our network of certified genetic counselors and ophthalmology specialists ensures comprehensive care regardless of your location.
Take the Next Step Toward Clarity
Don’t let uncertainty about your vision health continue. Our PRPH2 Gene Fundus Albipunctatus NGS Genetic DNA Test provides the answers you need for proper diagnosis and management. With our limited-time discount pricing at $500 USD (regularly $700), now is the perfect time to take control of your eye health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated team is ready to guide you through the testing process and help you understand your results for better vision health management.
