GNAT2 Gene Achromatopsia Type 4 NGS Genetic DNA Test
Comprehensive Genetic Testing for Complete Color Blindness
The GNAT2 Gene Achromatopsia Type 4 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited vision disorders. This advanced testing methodology provides definitive identification of mutations in the GNAT2 gene, which plays a critical role in color vision and phototransduction pathways. Achromatopsia type 4 is a rare autosomal recessive condition characterized by complete color blindness, and early genetic diagnosis is essential for proper management and treatment planning.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the GNAT2 gene using next-generation sequencing technology to identify:
- Pathogenic variants and mutations in the GNAT2 gene sequence
- Single nucleotide polymorphisms (SNPs) affecting cone photoreceptor function
- Deletions, insertions, and other structural variations in the genetic code
- Autosomal recessive inheritance patterns for achromatopsia type 4
- Genetic markers associated with complete color vision deficiency
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals experiencing:
- Complete color blindness (monochromatic vision)
- Extreme light sensitivity (photophobia) in normal lighting conditions
- Significantly reduced visual acuity, typically 20/200 or worse
- Involuntary eye movements (nystagmus) present from infancy
- Family history of color vision disorders or achromatopsia
- Children showing delayed visual development or abnormal light responses
- Individuals planning family with known achromatopsia in family history
Key Benefits of GNAT2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Definitive Diagnosis: Confirms achromatopsia type 4 with genetic certainty
- Genetic Counseling: Enables informed family planning decisions
- Personalized Management: Guides appropriate vision care and lifestyle adaptations
- Early Intervention: Facilitates timely support for children with vision challenges
- Research Contribution: Advances understanding of inherited vision disorders
- Treatment Planning: Informs potential future gene therapy eligibility
Understanding Your Test Results
Your genetic test results will provide clear, comprehensive information about your GNAT2 gene status:
- Positive Result: Identifies pathogenic variants confirming achromatopsia type 4 diagnosis
- Negative Result: No detected mutations in the GNAT2 gene sequence
- Variant of Uncertain Significance: Genetic changes requiring further clinical correlation
- Carrier Status: Identifies individuals carrying one copy of mutated gene
All results include detailed interpretation by certified genetic counselors and recommendations for next steps in management and family planning.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | GNAT2 Gene Achromatopsia Type 4 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, 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 color vision condition affect your quality of life. The GNAT2 Gene Achromatopsia Type 4 NGS Genetic DNA Test provides the clarity and 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.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take the first step toward understanding your genetic vision health with our advanced NGS technology and expert medical team.
