PAX6 Gene Foveal Hypoplasia Type 1 NGS Genetic DNA Test
Comprehensive Genetic Screening for Inherited Eye Disorders
The PAX6 Gene Foveal Hypoplasia Type 1 NGS Genetic DNA Test represents a breakthrough in ophthalmological genetic testing, providing precise detection capabilities for inherited eye conditions affecting retinal development. This advanced diagnostic tool utilizes state-of-the-art Next Generation Sequencing technology to analyze the PAX6 gene, which plays a crucial role in eye formation and visual system development.
What This Test Measures and Detects
Our comprehensive genetic screening specifically targets mutations and variations within the PAX6 gene that are associated with foveal hypoplasia type 1. The test examines:
- Point mutations affecting PAX6 gene function
- Deletions and insertions within the gene sequence
- Regulatory region variations impacting gene expression
- Pathogenic variants linked to congenital eye abnormalities
- Inheritance patterns of PAX6-related disorders
Who Should Consider This Genetic Screening
This specialized genetic test is recommended for individuals experiencing:
- Congenital vision abnormalities or eye malformations
- Family history of inherited eye disorders
- Unexplained visual impairment from birth
- Diagnosed foveal hypoplasia requiring genetic confirmation
- Multiple family members with similar eye conditions
- Planning for pregnancy with known family history of eye disorders
Clinical Benefits of Genetic Testing
Undergoing the PAX6 Gene Foveal Hypoplasia Type 1 NGS Genetic DNA Test provides numerous advantages:
- Early Diagnosis: Enables prompt identification of genetic causes for vision disorders
- Personalized Treatment: Guides ophthalmologists in developing targeted treatment strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Proactive Management: Allows for early intervention and vision preservation strategies
- Peace of Mind: Offers clarity and understanding of inherited conditions
Understanding Your Test Results
Our comprehensive genetic counseling ensures you fully understand your results:
- Positive Result: Indicates the presence of PAX6 gene mutations associated with foveal hypoplasia type 1
- Negative Result: Suggests no detectable mutations in the PAX6 gene analyzed
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if you carry mutations that could be passed to offspring
All results are accompanied by detailed explanations from our certified genetic counselors, who provide personalized guidance based on your specific genetic findings and family history.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| PAX6 Gene Foveal Hypoplasia Type 1 NGS Genetic DNA Test – Discount Price | $500 |
| PAX6 Gene Foveal Hypoplasia Type 1 NGS Genetic DNA Test – Regular Price | $700 |
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, and many more. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Eye Health Today
Don’t let uncertainty about inherited eye conditions affect your quality of life. Our PAX6 Gene Foveal Hypoplasia Type 1 NGS Genetic DNA Test provides the clarity and information you need for informed healthcare decisions. With results available in 3-4 weeks and comprehensive genetic counseling included, you’ll receive the expert guidance necessary to understand your genetic profile.
Call us today at +1(267) 388-9828 to schedule your genetic screening appointment or book online through our secure patient portal. Our dedicated genetic specialists are ready to assist you in taking the next step toward understanding your eye health heritage.
