GUCA1A Gene Cone-Rod Dystrophy Type 14 NGS Genetic DNA Test
Understanding Cone-Rod Dystrophy Type 14
Cone-rod dystrophy type 14 is a rare inherited retinal disorder characterized by progressive vision loss affecting both cone and rod photoreceptor cells in the retina. This condition typically manifests with early-onset visual impairment, night blindness, and photophobia. The GUCA1A gene plays a critical role in phototransduction, the process by which light signals are converted into electrical signals in the retina. Mutations in this gene disrupt normal calcium signaling in photoreceptor cells, leading to their gradual degeneration and subsequent vision loss.
What This Test Detects
The GUCA1A Gene Cone-Rod Dystrophy Type 14 NGS Genetic DNA Test utilizes advanced next-generation sequencing technology to comprehensively analyze the GUCA1A gene for pathogenic variants. This sophisticated testing approach identifies:
- Point mutations affecting guanylate cyclase activating protein function
- Missense mutations disrupting calcium-binding domains
- Frameshift mutations leading to truncated proteins
- Nonsense mutations causing premature stop codons
- Splice site variants affecting mRNA processing
Who Should Consider This Test
This genetic test is recommended for individuals experiencing symptoms suggestive of inherited retinal disorders, including:
- Progressive vision loss beginning in childhood or early adulthood
- Difficulty with night vision and dark adaptation
- Increased sensitivity to bright light (photophobia)
- Reduced visual acuity not corrected by glasses
- Color vision abnormalities
- Family history of inherited retinal diseases
- Unexplained vision deterioration with normal eye examination findings
Benefits of Genetic Testing
Undergoing GUCA1A genetic testing provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms the specific genetic cause of vision problems
- Early Intervention: Enables timely management strategies to preserve remaining vision
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and visual outcomes
- Clinical Trial Eligibility: May qualify patients for emerging gene therapy trials
- Psychological Relief: Reduces uncertainty and provides closure regarding diagnosis
Understanding Your Test Results
Your GUCA1A genetic test results will fall into one of several categories:
- Positive Result: Indicates the presence of a known pathogenic mutation in the GUCA1A gene, confirming the diagnosis of cone-rod dystrophy type 14
- Negative Result: No mutations detected in the GUCA1A gene, suggesting other genetic or non-genetic causes for symptoms
- Variant of Uncertain Significance: Identifies a genetic change whose clinical significance is currently unknown
- Carrier Status: May identify individuals who carry one copy of a mutated gene without showing symptoms
All results are accompanied by comprehensive genetic counseling to ensure proper interpretation and understanding of implications for you and your family members.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- 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
- Specialty: Ophthalmology Genetics
Pre-Test Requirements
Before undergoing GUCA1A genetic testing, patients should provide:
- Complete clinical history including vision symptoms and progression
- Participation in genetic counseling session
- Detailed pedigree chart documenting family members affected by retinal disorders
- Current ophthalmological examination findings
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many other cities. Our network of certified genetic counselors and ophthalmology specialists ensures you receive expert care regardless of your location.
Take Control of Your Vision Health Today
Don’t let uncertainty about your vision condition affect your quality of life. Early genetic diagnosis of cone-rod dystrophy type 14 can provide clarity, guide management strategies, and open doors to potential future treatments. Our team of genetic specialists and ophthalmologists are ready to help you understand your genetic risk and develop a personalized care plan.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your GUCA1A genetic test and take the first step toward understanding your vision health.
