CD3G Gene Cone-Rod Dystrophy Type 17 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Retinal Disorders
The CD3G Gene Cone-Rod Dystrophy Type 17 NGS Genetic DNA Test represents a breakthrough in ophthalmic genetic diagnostics, offering precise detection of mutations associated with inherited retinal diseases. Cone-rod dystrophy type 17 is a progressive retinal disorder characterized by the degeneration of cone and rod photoreceptor cells, leading to significant visual impairment over time. This advanced genetic test provides critical insights for patients and healthcare providers, enabling early intervention and personalized management strategies.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test specifically targets the CD3G gene, which plays a crucial role in retinal function and photoreceptor cell maintenance. The test identifies:
- Pathogenic mutations in the CD3G gene associated with cone-rod dystrophy type 17
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Copy number variations (CNVs) affecting the CD3G gene region
- Novel genetic variants with potential clinical significance
- Inheritance patterns that may affect family members
Using state-of-the-art next-generation sequencing technology, our test provides comprehensive coverage of the entire CD3G gene coding region, ensuring high sensitivity and specificity in mutation detection.
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Progressive vision loss beginning in childhood or early adulthood
- Photophobia (light sensitivity) and difficulty with bright lighting
- Color vision abnormalities and reduced visual acuity
- Night blindness or difficulty seeing in low-light conditions
- Central vision loss with preserved peripheral vision
- Family history of inherited retinal diseases or cone-rod dystrophy
- Unexplained visual symptoms with normal clinical examination findings
- Patients undergoing genetic counseling for family planning purposes
Clinical Benefits of Genetic Testing
Undergoing the CD3G Gene Cone-Rod Dystrophy Type 17 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out genetic causes of retinal symptoms
- Prognostic Information: Helps predict disease progression and visual outcomes
- Personalized Management: Enables tailored treatment and monitoring strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of vision preservation strategies
- Clinical Trial Eligibility: May qualify patients for emerging gene therapy trials
- Psychological Relief: Reduces diagnostic uncertainty and provides clarity
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results effectively:
- Positive Result: Indicates the presence of a pathogenic CD3G gene mutation. This confirms the genetic diagnosis of cone-rod dystrophy type 17 and enables targeted management approaches.
- Negative Result: No pathogenic mutations detected in the CD3G gene. This may suggest alternative genetic causes or non-genetic factors for your symptoms.
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unknown clinical impact. Additional family testing or research may be recommended.
- Carrier Status: Determines if you carry a single copy of a mutated gene, which may be important for family planning decisions.
All results are provided with detailed explanations and recommendations for next steps, including referrals to retinal specialists and genetic counselors.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-test Requirements: Clinical History and Genetic Counseling Session
Nationwide Testing Availability
We have conveniently located testing centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network of certified genetic counselors and ophthalmology specialists ensures comprehensive care throughout your testing journey.
Take Control of Your Vision Health Today
Don’t let uncertainty about your vision symptoms affect your quality of life. The CD3G Gene Cone-Rod Dystrophy Type 17 NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. Our team of genetic specialists and ophthalmology experts is ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Early genetic testing can make a significant difference in managing inherited retinal conditions and preserving your vision for the future.
