PAX6 Gene Coloboma Ocular Autosomal Dominant NGS Genetic DNA Test
Comprehensive Genetic Testing for Ocular Coloboma
The PAX6 Gene Coloboma Ocular Autosomal Dominant NGS Genetic DNA Test represents a breakthrough in precision medicine for individuals and families affected by congenital eye disorders. This advanced diagnostic tool specifically targets mutations in the PAX6 gene, which plays a crucial role in eye development and function. Through state-of-the-art Next Generation Sequencing technology, our test provides unparalleled accuracy in detecting genetic variants associated with ocular coloboma and related conditions.
What Does This Test Measure and Detect?
This specialized genetic test focuses on identifying pathogenic variants in the PAX6 gene, which is essential for proper eye formation during embryonic development. The test specifically detects:
- Point mutations, deletions, and insertions in the PAX6 gene
- Autosomal dominant inheritance patterns of ocular coloboma
- Genetic markers associated with structural eye abnormalities
- Variants linked to congenital cataracts and aniridia
- Mutations affecting optic nerve development and retinal formation
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals exhibiting specific symptoms or having relevant family history:
- Patients with congenital coloboma of the iris, retina, or choroid
- Individuals with family history of autosomal dominant eye disorders
- Children born with unexplained vision impairment or eye abnormalities
- Patients diagnosed with aniridia or congenital cataracts
- Individuals with optic nerve hypoplasia or microphthalmia
- Those planning pregnancy with known family history of PAX6-related disorders
Key Benefits of PAX6 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Precise identification of PAX6 gene mutations enables definitive diagnosis
- Family Planning Guidance: Understand inheritance risks for future generations
- Personalized Management: Tailored treatment and monitoring strategies based on genetic profile
- Early Intervention: Proactive management of associated conditions and complications
- Genetic Counseling: Professional guidance for understanding results and implications
- Peace of Mind: Clear answers about genetic predisposition and family risks
Understanding Your Test Results
Our comprehensive genetic counseling ensures you fully comprehend your test outcomes:
- Positive Result: Indicates presence of PAX6 gene mutation; requires specialized ophthalmological care and genetic counseling
- Negative Result: No detected mutation; may suggest other genetic or environmental causes for symptoms
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for family planning and genetic risk assessment
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | PAX6 Gene Coloboma Ocular Autosomal Dominant 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 have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services with consistent quality standards nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic eye conditions affect your quality of life. Our expert team of genetic counselors and ophthalmology specialists are ready to guide you through the testing process and help you understand your results. Early genetic testing can provide crucial information for managing ocular health and making informed decisions about your care.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or book your PAX6 Gene Coloboma Genetic DNA Test online. Take control of your genetic health with confidence and precision.
