C21orf2 Gene Cone-Rod Dystrophy NGS Genetic DNA Test
Understanding Cone-Rod Dystrophy and C21orf2 Gene Testing
Cone-rod dystrophy represents a group of inherited retinal disorders characterized by progressive vision loss affecting both cone and rod photoreceptor cells. The C21orf2 gene, located on chromosome 21, plays a crucial role in retinal development and function. Mutations in this specific gene can lead to autosomal recessive cone-rod dystrophy, making genetic testing essential for accurate diagnosis and management.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based genetic analysis specifically targets:
- Pathogenic variants in the C21orf2 gene associated with cone-rod dystrophy
- Single nucleotide polymorphisms (SNPs) affecting retinal function
- Insertion/deletion mutations that disrupt normal gene expression
- Copy number variations impacting photoreceptor cell health
- Autosomal recessive inheritance patterns for family planning
Who Should Consider C21orf2 Genetic Testing?
Clinical Indications and Symptoms
This genetic test is recommended for individuals experiencing:
- Progressive vision loss beginning in childhood or early adulthood
- Difficulty with color discrimination and reduced visual acuity
- Night blindness and photophobia (light sensitivity)
- Family history of inherited retinal disorders
- Abnormal electroretinogram (ERG) results indicating cone-rod dysfunction
- Unexplained visual field defects or central vision loss
Significant Benefits of Early Genetic Diagnosis
Undergoing C21orf2 genetic testing provides numerous advantages:
- Accurate Diagnosis: Confirms cone-rod dystrophy subtype for targeted management
- Prognostic Information: Helps predict disease progression and visual outcomes
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Treatment Guidance: Supports development of personalized vision preservation strategies
- Clinical Trial Eligibility: Opens access to emerging retinal disease therapies
- Psychological Relief: Reduces diagnostic uncertainty and provides clarity
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will fall into one of these categories:
- Positive Result: Identifies pathogenic C21orf2 mutation confirming cone-rod dystrophy diagnosis
- Negative Result: No detected mutations in C21orf2 gene, suggesting alternative causes
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Identifies individuals with single mutation who may pass condition to offspring
All results include comprehensive genetic counseling to ensure proper understanding and next steps. Our certified genetic counselors help interpret findings within the context of your clinical presentation and family history.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | C21orf2 Gene Cone-Rod Dystrophy 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
Before scheduling your genetic test, we recommend:
- Comprehensive clinical history documentation of retinal symptoms
- Genetic counseling session to create detailed family pedigree chart
- Discussion of potential implications for family members
- Review of current ophthalmological findings and test results
- Understanding of insurance coverage and potential out-of-pocket costs
Nationwide Accessibility and Convenience
GGC DNA maintains testing facilities across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures convenient access to advanced genetic testing regardless of your location.
Take Control of Your Vision Health Today
Early genetic diagnosis of cone-rod dystrophy can significantly impact your quality of life and vision preservation strategies. Our $500 genetic test provides definitive answers and empowers you to make informed healthcare decisions.
Ready to schedule your C21orf2 genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer questions, discuss insurance coverage, and guide you through the testing process.
Don’t let uncertainty about your vision health continue. Take the first step toward clarity and personalized care with comprehensive C21orf2 genetic testing from GGC DNA – your trusted partner in genetic diagnostics.
