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PAX6 Gene Coloboma Ocular Autosomal Dominant Genetic Test

Original price was: $700.Current price is: $500.

-29%

The PAX6 Gene Coloboma Ocular Autosomal Dominant NGS Genetic DNA Test is a cutting-edge diagnostic tool that identifies mutations in the PAX6 gene responsible for ocular coloboma and related eye disorders. This comprehensive test utilizes Next Generation Sequencing technology to provide accurate detection of autosomal dominant genetic variants that can cause structural eye defects, vision impairment, and associated developmental abnormalities. Patients with family history of coloboma, congenital eye abnormalities, or unexplained vision problems benefit from this precise genetic analysis. The test costs $500 USD and includes professional genetic counseling to help interpret results and understand inheritance patterns. Early detection enables proactive management and informed family planning decisions.

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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.

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