PRPH2 Gene Choroidal Dystrophy Central Areolar Type 2 NGS Genetic DNA Test
Understanding PRPH2 Gene Choroidal Dystrophy
PRPH2 Gene Choroidal Dystrophy Central Areolar Type 2 is a rare inherited retinal disorder that specifically affects the central portion of the retina, leading to progressive vision loss. This condition is caused by mutations in the PRPH2 gene, which plays a crucial role in maintaining the structural integrity of photoreceptor cells in the retina. The central areolar choroidal dystrophy type 2 typically manifests in adulthood and progressively deteriorates central vision while preserving peripheral vision.
What This Advanced Genetic Test Detects
Our comprehensive NGS Genetic DNA Test specifically targets mutations in the PRPH2 gene that are responsible for central areolar choroidal dystrophy type 2. The test utilizes cutting-edge Next-Generation Sequencing technology to analyze the entire coding region of the PRPH2 gene, identifying:
- Point mutations and single nucleotide variations
- Small insertions and deletions
- Copy number variations affecting the PRPH2 gene
- Pathogenic variants associated with disease progression
- Novel mutations that may not be documented in existing databases
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals experiencing:
- Progressive central vision loss beginning in adulthood
- Difficulty with reading, facial recognition, or detailed tasks
- Family history of inherited retinal disorders
- Unexplained vision deterioration despite normal eye exams
- Diagnostic uncertainty regarding the cause of vision loss
- Planning for family and reproductive decisions
Significant Benefits of Early Genetic Testing
Undergoing PRPH2 genetic testing provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms the specific genetic cause of vision symptoms
- Proactive Management: Enables early intervention and monitoring strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides ophthalmologists in developing targeted treatment plans
- Clinical Trial Eligibility: May qualify patients for emerging therapies and research studies
- Psychological Relief: Reduces diagnostic uncertainty and provides clarity
Understanding Your Test Results
Interpretation and Next Steps
Your genetic test results will be carefully interpreted by our team of genetic specialists and ophthalmologists:
- Positive Result: Indicates the presence of a pathogenic PRPH2 mutation. Our genetic counselors will explain the implications and recommend appropriate management strategies.
- Negative Result: Suggests that PRPH2 mutations were not detected, though other genetic or non-genetic causes should still be considered.
- Variant of Uncertain Significance: Some genetic changes may have unknown clinical implications, requiring further evaluation and family studies.
All results include comprehensive genetic counseling to ensure you fully understand the findings and their implications for your health and family.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PRPH2 Gene Choroidal Dystrophy Central Areolar Type 2 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 and Preparation
To ensure the most accurate results, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of family members affected by similar vision disorders
- Recent ophthalmological examination records
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, and San Jose. 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 stress. Our PRPH2 genetic testing provides the clarity you need to make informed decisions about your eye health and future. With our discounted price of $500 USD and comprehensive genetic counseling support, you can take the first step toward understanding your condition and exploring management options.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
