CYP1B1 Gene Glaucoma Primary Type 3A NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Glaucoma
The CYP1B1 Gene Glaucoma Primary Type 3A NGS Genetic DNA Test represents a breakthrough in ophthalmological genetics, offering precise detection of mutations responsible for primary congenital glaucoma type 3A. This inherited condition affects the eye’s drainage system, leading to increased intraocular pressure and potential vision loss if left untreated. Our advanced testing methodology provides families and healthcare providers with critical information for early intervention and personalized treatment planning.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets the CYP1B1 gene, which plays a crucial role in eye development and aqueous humor drainage. The test utilizes Next-Generation Sequencing technology to comprehensively examine:
- Point mutations in the CYP1B1 gene coding regions
- Small insertions and deletions affecting gene function
- Regulatory region variants that may impact gene expression
- Known pathogenic variants associated with primary congenital glaucoma
- Novel mutations that could contribute to disease development
Who Should Consider This Genetic Test
This test is particularly recommended for individuals and families experiencing:
- Children with symptoms of congenital glaucoma including excessive tearing, light sensitivity, or cloudy corneas
- Individuals with family history of early-onset glaucoma across multiple generations
- Parents planning pregnancy who have known glaucoma in their family medical history
- Patients diagnosed with juvenile glaucoma without clear environmental causes
- Individuals from populations with higher prevalence of CYP1B1 mutations
- Siblings of children diagnosed with primary congenital glaucoma
Significant Benefits of Genetic Testing
Undergoing the CYP1B1 genetic test provides numerous advantages for patients and families:
- Early Intervention Opportunities: Identify at-risk individuals before significant vision damage occurs
- Personalized Treatment Plans: Develop targeted monitoring and treatment strategies based on genetic risk
- Family Planning Guidance: Make informed reproductive decisions with comprehensive genetic counseling
- Reduced Diagnostic Uncertainty: Provide definitive answers for families with ambiguous clinical presentations
- Proactive Monitoring: Implement appropriate screening schedules for at-risk family members
- Psychological Relief: Reduce anxiety through clear understanding of genetic status
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and ophthalmology specialists. Results typically fall into three categories:
- Positive Result: Indicates the presence of known pathogenic mutations in the CYP1B1 gene. This confirms genetic predisposition to primary congenital glaucoma type 3A and enables immediate implementation of preventive measures and monitoring protocols.
- Negative Result: Suggests absence of the tested CYP1B1 mutations. However, this does not completely rule out other genetic or environmental factors contributing to glaucoma risk.
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact. These results require careful clinical correlation and may necessitate additional family studies for proper interpretation.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Nationwide Testing 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, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take Control of Your Genetic Health Today
Don’t let genetic uncertainty compromise your vision health. Our comprehensive CYP1B1 genetic testing provides the clarity needed for informed healthcare decisions. Our experienced genetic counselors are available to discuss your results and develop personalized management strategies.
Ready to schedule your test? Contact us today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic risk and protecting your vision for generations to come.
