CDHR1 Gene Cone-Rod Dystrophy Type 15 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Retinal Disorders
The CDHR1 Gene Cone-Rod Dystrophy Type 15 NGS Genetic DNA Test represents a breakthrough in ophthalmic genetic diagnostics, offering precise identification of mutations responsible for this specific form of inherited retinal degeneration. Cone-rod dystrophy type 15 is a progressive eye disorder characterized by the deterioration of both cone and rod photoreceptor cells, essential for color vision and low-light vision respectively.
What This Advanced Genetic Test Detects
This sophisticated Next-Generation Sequencing (NGS) test specifically analyzes the CDHR1 (cadherin-related family member 1) gene, which plays a crucial role in maintaining the structural integrity of photoreceptor cells in the retina. The test identifies:
- Pathogenic variants and mutations in the CDHR1 gene
- Inheritance patterns (autosomal recessive)
- Specific genetic markers associated with cone-rod dystrophy type 15
- Risk assessment for family members
- Carrier status identification
Who Should Consider CDHR1 Genetic Testing
This test is particularly recommended for individuals experiencing:
- Progressive vision loss beginning in childhood or early adulthood
- Difficulty with color discrimination and perception
- Increased sensitivity to light (photophobia)
- Reduced visual acuity that cannot be corrected with glasses
- Loss of peripheral vision or central vision
- Family history of inherited retinal diseases
- Unexplained vision deterioration with normal eye examination findings
Significant Benefits of Early Genetic Diagnosis
Undergoing CDHR1 genetic testing provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms the specific genetic cause of vision symptoms
- Prognostic Information: Helps predict disease progression and severity
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Personalized Management: Guides appropriate vision rehabilitation strategies
- Clinical Trial Eligibility: Opens opportunities for emerging treatments
- Psychological Relief: Provides clarity and reduces diagnostic uncertainty
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and ophthalmologists:
- Positive Result: Indicates the presence of CDHR1 gene mutations confirming cone-rod dystrophy type 15 diagnosis
- Negative Result: Suggests that CDHR1 mutations are not the cause of symptoms, though other genetic factors may be involved
- Variant of Uncertain Significance: Requires additional family testing and clinical correlation
- Carrier Status: Identifies individuals who carry one copy of the mutated gene but may not show symptoms
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CDHR1 Gene Cone-Rod Dystrophy Type 15 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 and Convenient Testing
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 testing facilities ensures accessible, reliable testing no matter where you’re located.
Take Control of Your Vision Health Today
Don’t let uncertainty about your vision symptoms continue. Early genetic diagnosis can provide the clarity needed to make informed decisions about your eye health and future. Our team of genetic specialists and ophthalmologists are ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your CDHR1 genetic test consultation and take the first step toward understanding your genetic vision health.
Remember: Early detection through genetic testing can significantly impact your quality of life and help you access the most appropriate vision care and support services available.
