CRX Gene Cone-Rod Dystrophy Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Inherited Retinal Disorders
The CRX Gene Cone-Rod Dystrophy Type 2 NGS Genetic DNA Test represents a breakthrough in ophthalmic genetic diagnostics, offering precise detection of mutations in the CRX (Cone-Rod Homeobox) gene. This specialized test utilizes advanced Next-Generation Sequencing technology to identify genetic variations responsible for cone-rod dystrophy type 2, a progressive inherited retinal disorder that significantly impacts visual function and quality of life.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the CRX gene located on chromosome 19q13.3, which plays a crucial role in photoreceptor development and maintenance. The test identifies:
- Pathogenic variants in the CRX gene associated with cone-rod dystrophy type 2
- Single nucleotide polymorphisms (SNPs) affecting gene function
- Insertions, deletions, and missense mutations
- Regulatory region abnormalities impacting gene expression
- Inheritance patterns (autosomal dominant)
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Progressive vision loss beginning in childhood or early adulthood
- Difficulty with color discrimination and central vision
- Night blindness and photophobia
- Family history of inherited retinal diseases
- Unexplained visual impairment with normal eye examination findings
- Planning for family and concerned about genetic transmission
Clinical Benefits of Genetic Testing
Undergoing the CRX Gene Cone-Rod Dystrophy Type 2 test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out genetic causes of visual symptoms
- Early Intervention: Enables proactive management strategies
- Family Planning: Provides crucial information for reproductive decisions
- Personalized Care: Guides appropriate ophthalmological management
- Genetic Counseling: Supports informed decision-making for affected families
- Research Participation: May qualify patients for clinical trials
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 a pathogenic CRX gene mutation, confirming cone-rod dystrophy type 2 diagnosis
- Negative Result: Suggests that CRX gene mutations are not the cause of symptoms, though other genetic factors may be involved
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry the mutation without showing symptoms
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of test implications with healthcare provider
- Understanding of potential outcomes and their significance
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 cities. Our network of certified genetic counselors and ophthalmology specialists ensures comprehensive care regardless of your location.
Take Control of Your Visual Health
Don’t let uncertainty about your vision symptoms create unnecessary anxiety. The CRX Gene Cone-Rod Dystrophy Type 2 NGS Genetic DNA Test provides definitive answers that can guide your treatment journey and inform important life decisions. Our team of genetic specialists and ophthalmologists are ready to support you through every step of the testing process.
Ready to schedule your genetic test? Call us today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and preserving your vision for the future.
