PDE6C Gene Cone-Rod Dystrophy Type 4 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Retinal Disorders
The PDE6C Gene Cone-Rod Dystrophy Type 4 NGS Genetic DNA Test represents a breakthrough in ophthalmic genetic diagnostics, offering precise detection of mutations in the PDE6C gene that cause cone-rod dystrophy type 4. This progressive inherited retinal disorder affects the photoreceptor cells essential for central and color vision, as well as peripheral and night vision. Early and accurate diagnosis through this advanced genetic test enables proactive management strategies and informed family planning decisions.
What This Test Measures and Detects
Our state-of-the-art Next-Generation Sequencing (NGS) technology comprehensively analyzes the PDE6C gene to identify:
- Pathogenic variants and mutations in the PDE6C gene
- Single nucleotide polymorphisms (SNPs) associated with cone-rod dystrophy
- Deletions, insertions, and copy number variations
- Compound heterozygous and homozygous mutations
- Novel variants of uncertain significance requiring further analysis
The PDE6C gene encodes phosphodiesterase 6C, a critical enzyme in the phototransduction cascade within retinal photoreceptor cells. Mutations disrupt this process, leading to progressive degeneration of cone and rod cells.
Who Should Consider This Genetic Test
This test is recommended for individuals experiencing symptoms or with family history suggesting cone-rod dystrophy:
- Progressive vision loss beginning in childhood or early adulthood
- Difficulty with color discrimination and central vision
- Increased sensitivity to light (photophobia)
- Poor night vision and peripheral vision loss
- Family history of inherited retinal disorders
- Unexplained visual impairment with normal eye examination findings
- Children of affected individuals for carrier status determination
Clinical Benefits of PDE6C Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out cone-rod dystrophy type 4 with high precision
- Early Intervention: Enables timely implementation of vision preservation strategies
- Genetic Counseling: Provides essential information for family planning and risk assessment
- Personalized Management: Guides appropriate low-vision aids and lifestyle modifications
- Clinical Trial Eligibility: Opens opportunities for emerging gene therapy treatments
- Psychological Relief: Reduces uncertainty and provides clear diagnostic answers
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your results:
- Positive Result: Indicates pathogenic mutation(s) in the PDE6C gene confirming diagnosis
- Negative Result: No detected mutations; may require additional testing for other retinal genes
- Variant of Uncertain Significance: Requires family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results include detailed interpretation by our board-certified genetic counselors and ophthalmologists, with recommendations for ongoing management and family screening.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PDE6C Gene Cone-Rod Dystrophy Type 4 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) |
| Specialty | Ophthalmology Genetics |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of ophthalmological examination findings
- Informed consent for genetic testing
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures easy access to this vital genetic testing service.
Take Control of Your Vision Health Today
Don’t let uncertainty about your vision health continue. Early genetic diagnosis of cone-rod dystrophy type 4 can significantly impact your quality of life and future planning. Our expert team of genetic counselors and ophthalmologists are ready to guide you through this important diagnostic journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your PDE6C genetic test consultation and take the first step toward clarity and informed vision care management.
