CNGB3 Gene Achromatopsia Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Color Vision Disorders
The CNGB3 Gene Achromatopsia Type 3 NGS Genetic DNA Test represents a breakthrough in diagnostic precision for individuals affected by inherited retinal disorders. This advanced genetic analysis specifically targets mutations in the CNGB3 gene, which plays a critical role in phototransduction – the process by which light signals are converted into neural signals in the retina. Achromatopsia type 3 is a rare autosomal recessive condition characterized by complete color blindness, extreme light sensitivity, and significantly reduced visual acuity from birth.
What Does This Test Measure and Detect?
Our comprehensive NGS-based genetic test meticulously analyzes the entire CNGB3 gene sequence to identify pathogenic variants responsible for achromatopsia type 3. The test detects:
- Point mutations affecting the cyclic nucleotide-gated channel beta-3 protein
- Frameshift mutations disrupting normal gene function
- Nonsense mutations leading to premature protein termination
- Splice site variants affecting mRNA processing
- Deletions and insertions within the CNGB3 gene region
This test utilizes state-of-the-art next-generation sequencing technology, providing unparalleled accuracy in identifying even the most subtle genetic alterations that conventional methods might miss.
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with the following symptoms and clinical indications:
- Complete Color Blindness: Inability to perceive any colors, seeing only in shades of gray
- Severe Photophobia: Extreme sensitivity to light causing discomfort and vision impairment
- Reduced Visual Acuity: Typically 20/200 or worse, not correctable with glasses
- Nystagmus: Involuntary, rapid eye movements typically present from infancy
- Family History: Individuals with relatives diagnosed with achromatopsia or similar retinal disorders
- Children with Vision Issues: Young patients exhibiting signs of congenital vision impairment
Significant Benefits of CNGB3 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out achromatopsia type 3 with molecular precision
- Personalized Management: Enables tailored treatment strategies based on specific genetic findings
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Facilitates timely implementation of vision aids and environmental modifications
- Research Participation: May qualify patients for clinical trials and emerging therapies
- Psychological Relief: Offers clarity and understanding of the condition’s genetic basis
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information to help you and your healthcare provider understand the findings:
- Positive Result: Identifies specific CNGB3 gene mutations confirming achromatopsia type 3 diagnosis
- Negative Result: No pathogenic variants detected in CNGB3 gene, suggesting alternative causes for symptoms
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without symptoms
All results are accompanied by detailed interpretation and recommendations from our board-certified genetic specialists. We strongly recommend discussing results with your ophthalmologist and genetic counselor to develop an appropriate management plan.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| CNGB3 Gene Achromatopsia Type 3 NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
To ensure optimal testing accuracy and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of affected family members with similar symptoms
- Ophthalmological examination records
Nationwide Availability
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 collection centers ensures accessible testing regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your vision condition persist. Our CNGB3 Gene Achromatopsia Type 3 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. Our team of genetic specialists and ophthalmology experts are ready to guide you through every step of the testing process.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take control of your genetic health and gain the clarity needed for informed medical decisions.
