POC1B Gene Cone-Rod Dystrophy Type 20 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Retinal Disorders
The POC1B Gene Cone-Rod Dystrophy Type 20 NGS Genetic DNA Test represents a breakthrough in ophthalmic genetic diagnostics, offering precise detection of mutations associated with this specific form of inherited retinal degeneration. Cone-rod dystrophy type 20 is a progressive eye disorder characterized by the deterioration of both cone and rod photoreceptor cells, leading to significant visual impairment over time.
What This Advanced Genetic Test Measures
This sophisticated diagnostic examination utilizes Next-Generation Sequencing (NGS) technology to analyze the POC1B gene comprehensively. The test specifically identifies:
- Pathogenic variants and mutations in the POC1B gene
- Single nucleotide polymorphisms (SNPs) associated with cone-rod dystrophy
- Copy number variations affecting gene function
- Deletion and insertion mutations impacting protein structure
- Compound heterozygous or homozygous mutations
Who Should Consider This Genetic Test
This specialized genetic analysis is recommended for individuals experiencing:
- Progressive vision loss beginning in childhood or early adulthood
- Difficulty with color discrimination and perception
- Increased sensitivity to bright light (photophobia)
- Reduced visual acuity that cannot be corrected with glasses
- Loss of central vision with peripheral vision preservation
- Family history of inherited retinal disorders
- Unexplained visual symptoms with normal eye examination findings
- Children of known POC1B gene mutation carriers
Significant Benefits of Early Genetic Diagnosis
Undergoing the POC1B genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out cone-rod dystrophy type 20 with high precision
- Prognostic Information: Helps predict disease progression and visual outcomes
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Management: Enables tailored vision rehabilitation and low-vision services
- Clinical Trial Eligibility: Opens opportunities for emerging gene therapies and treatments
- Psychological Relief: Reduces uncertainty and provides clarity for future planning
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of POC1B gene mutations associated with cone-rod dystrophy type 20. This confirms the genetic diagnosis and enables proactive management strategies.
- Negative Result: Suggests that POC1B mutations were not detected, though other genetic or non-genetic causes of visual symptoms should still be considered.
- Variant of Uncertain Significance: Some genetic changes may have unknown clinical implications, requiring ongoing monitoring and potential family studies.
Test Pricing and Availability
| Test Description | Price (USD) |
|---|---|
| POC1B Gene Cone-Rod Dystrophy Type 20 NGS Genetic DNA Test – Discount Price | $500 |
| POC1B Gene Cone-Rod Dystrophy Type 20 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing 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. Our network of certified genetic counselors and ophthalmology specialists ensures you receive comprehensive care regardless of your location.
Take Control of Your Visual Health Today
Early genetic diagnosis can significantly impact your quality of life and future vision outcomes. Our team of genetic specialists and ophthalmologists are ready to guide you through the testing process and provide personalized recommendations based on your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your POC1B genetic test and take the first step toward understanding your visual health.
With a turnaround time of 3-4 weeks and simple sample collection (blood, extracted DNA, or one drop of blood on FTA card), getting answers has never been more accessible. Don’t let uncertainty about your vision hold you back – book your comprehensive genetic assessment now.

