CNGA3 Gene Achromatopsia Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Color Vision Disorders
The CNGA3 Gene Achromatopsia Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the CNGA3 gene, which plays a critical role in color vision and retinal function. Achromatopsia type 2 is a rare autosomal recessive inherited retinal disorder characterized by complete color blindness, severe light sensitivity (photophobia), and significantly reduced visual acuity. This comprehensive genetic test utilizes next-generation sequencing technology to provide definitive molecular diagnosis, enabling precise clinical management and informed family planning decisions.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the CNGA3 gene located on chromosome 2q11.2, which encodes the alpha subunit of the cone photoreceptor cyclic nucleotide-gated channel. The test detects:
- Pathogenic variants and mutations in the CNGA3 gene
- Single nucleotide polymorphisms (SNPs) affecting cone photoreceptor function
- Deletions, insertions, and frameshift mutations
- Missense and nonsense mutations impacting protein structure
- Compound heterozygous mutations in autosomal recessive inheritance patterns
The NGS technology employed provides comprehensive coverage of the entire CNGA3 gene coding region, including all exons and flanking intronic regions, ensuring high detection sensitivity for various mutation types.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with the following symptoms and clinical indications:
- Complete Color Blindness: Total inability to perceive colors, seeing only in shades of gray
- Severe Photophobia: Extreme sensitivity to light causing discomfort and visual impairment
- Reduced Visual Acuity: Typically 20/200 or worse in normal lighting conditions
- Nystagmus: Involuntary, rapid eye movements typically present from infancy
- Family History: Individuals with family members diagnosed with achromatopsia or similar retinal disorders
- Unexplained Visual Impairment: Children or adults with unexplained visual symptoms matching achromatopsia presentation
- Genetic Counseling Candidates: Couples planning pregnancy with family history of color vision disorders
Key Benefits of CNGA3 Genetic Testing
- Definitive Diagnosis: Provides molecular confirmation of achromatopsia type 2, eliminating diagnostic uncertainty
- Family Planning Guidance: Enables informed reproductive decisions through accurate carrier testing and risk assessment
- Personalized Management: Guides appropriate visual aids, environmental modifications, and supportive care strategies
- Prognostic Information: Helps predict disease progression and potential visual outcomes
- Research Contribution: Contributes to ongoing research and potential future therapeutic developments
- Psychological Relief: Provides answers and closure for individuals and families seeking understanding of their condition
Understanding Your Test Results
Your genetic test results will fall into one of several categories, each with specific implications:
- Positive Result: Detection of two pathogenic CNGA3 mutations confirms achromatopsia type 2 diagnosis. This result provides definitive molecular evidence of the condition and confirms autosomal recessive inheritance pattern.
- Carrier Status: Identification of a single pathogenic mutation indicates carrier status. Carriers typically do not show symptoms but can pass the mutation to offspring.
- Negative Result: No pathogenic CNGA3 mutations detected. This may suggest alternative diagnoses or mutations in other genes associated with similar phenotypes.
- Variant of Uncertain Significance (VUS): Detection of genetic changes with unknown clinical significance. These results require careful interpretation and may need family studies for clarification.
All results include comprehensive interpretation by our genetic specialists and are accompanied by genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Information:
- Turnaround Time: 3 to 4 weeks
- Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Ophthalmology Genetics
Pre-Test Requirements and Genetic Counseling
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss test implications
- Development of detailed family pedigree chart
- Discussion of potential outcomes and their meanings
- Informed consent process ensuring complete understanding
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, and many other cities. Our network ensures accessible genetic testing services regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your vision condition affect your quality of life. The CNGA3 Gene Achromatopsia Type 2 NGS Genetic DNA Test provides the answers you need for proper diagnosis and management. Our team of genetic specialists and ophthalmologists are ready to guide you through the testing process and help you understand your results.
Ready to schedule your test? Contact us today:
Phone: +1(267) 388-9828
Booking: Available through our online portal or by phone
Take the first step toward understanding your genetic vision condition and accessing appropriate care and support. Our compassionate team is here to provide the comprehensive genetic testing services you deserve.
