PAX6 Gene Aniridia NGS Genetic DNA Test
Comprehensive Genetic Testing for Eye Development Disorders
The PAX6 Gene Aniridia NGS Genetic DNA Test represents a significant advancement in molecular diagnostics for congenital eye disorders. This sophisticated genetic analysis specifically targets the PAX6 gene, which serves as a master regulator of eye development during embryogenesis. Mutations in this critical gene are directly linked to aniridia, a rare congenital condition characterized by partial or complete absence of the iris, along with various other ocular abnormalities.
What Does This Test Measure?
This comprehensive genetic test utilizes Next-Generation Sequencing (NGS) technology to thoroughly examine the PAX6 gene for:
- Point mutations and single nucleotide variations
- Small insertions and deletions (indels)
- Copy number variations affecting gene function
- Regulatory region abnormalities
- Novel genetic variants with potential clinical significance
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Congenital absence or malformation of the iris
- Family history of aniridia or related eye disorders
- Developmental cataracts in infancy or childhood
- Corneal opacities or vascularization
- Glaucoma with early onset
- Foveal hypoplasia affecting visual acuity
- Nystagmus (involuntary eye movements)
- Photophobia (light sensitivity)
Clinical Benefits and Applications
Undergoing the PAX6 Gene Aniridia NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms genetic basis of ocular abnormalities
- Family Planning: Enables informed reproductive decisions
- Personalized Treatment: Guides appropriate management strategies
- Prognostic Information: Helps predict disease progression
- Genetic Counseling: Supports comprehensive family risk assessment
- Therapeutic Guidance: Informs potential gene therapy approaches
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and ophthalmologists:
- Positive Result: Indicates a pathogenic mutation in the PAX6 gene, confirming genetic diagnosis
- Negative Result: Suggests absence of detectable PAX6 mutations, though other genetic causes may exist
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PAX6 Gene Aniridia NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| 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 |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of potential implications with healthcare provider
- Understanding of insurance coverage and out-of-pocket costs
Nationwide Accessibility
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 the Next Step Toward Genetic Clarity
Don’t let uncertainty about your eye condition or family history prevent you from getting the answers you need. Our specialized genetic testing provides definitive information that can transform your healthcare journey and empower informed decisions about your vision health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your PAX6 Gene Aniridia NGS Genetic DNA Test and take control of your genetic health.
Our dedicated team of genetic counselors and ophthalmology specialists are ready to guide you through the testing process, answer your questions, and provide comprehensive support every step of the way. Early genetic diagnosis can significantly impact treatment outcomes and quality of life for individuals with congenital eye disorders.
