Short Description

NGS genetic DNA test detecets for variant and mutation detection in PAX6 gene for Aniridia

PreTest Information

Clinical History of Patient who is going for PAX6 Gene Aniridia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PAX6 Gene Aniridia NGS Genetic DNA Test gene PAX6

Detail Description

PAX6 Gene Aniridia NGS Genetic DNA Test - Cost, Symptoms, and Diagnosis

DNA Labs India offers a comprehensive genetic test for Aniridia, a rare eye disorder caused by mutations in the PAX6 gene. This test uses Next-Generation Sequencing (NGS) technology to identify any variations in the PAX6 gene, providing an accurate diagnosis for patients and their families.

Symptoms of Aniridia

Aniridia is a genetic condition that affects the development of the eye. People with Aniridia are born with incomplete or underdeveloped iris, the colored part of the eye that controls the amount of light that enters the eye. This can cause a number of symptoms including:

• Poor vision
• Nystagmus (involuntary eye movements)
• Glaucoma (increased pressure in the eye)
• Cataracts (clouding of the lens)

Aniridia can also cause other eye abnormalities such as foveal hypoplasia (underdevelopment of the central part of the retina) and optic nerve hypoplasia (underdevelopment of the optic nerve).

Diagnosis of Aniridia

Aniridia can be diagnosed through a comprehensive eye exam by an ophthalmologist. However, genetic testing can provide a definitive diagnosis and identify the specific genetic mutation responsible for the disorder.

The PAX6 gene is responsible for the development of the eye and mutations in this gene can cause Aniridia. The PAX6 gene Aniridia NGS Genetic DNA Test offered by DNA Labs India can identify any variations in the PAX6 gene, providing an accurate diagnosis for patients and their families.

Cost of PAX6 Gene Aniridia NGS Genetic DNA Test

The cost of the PAX6 Gene Aniridia NGS Genetic DNA Test at DNA Labs India is INR 20,000. This includes the cost of the test, genetic counseling, and a detailed report with the results of the test.

This test is highly recommended for individuals with a family history of Aniridia or those who are showing symptoms of the disorder. Early diagnosis and intervention can help prevent or manage the complications associated with Aniridia.

Conclusion

The PAX6 Gene Aniridia NGS Genetic DNA Test offered by DNA Labs India is a comprehensive genetic test that can accurately diagnose Aniridia and identify the specific genetic mutation responsible for the disorder. The cost of the test is INR 20,000 and includes genetic counseling and a detailed report with the results of the test. Early diagnosis and intervention can help prevent or manage the complications associated with Aniridia.

If you or a loved one is showing symptoms of Aniridia or has a family history of the disorder, contact DNA Labs India to learn more about the PAX6 Gene Aniridia NGS Genetic DNA Test and how it can help you.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for PAX6 Gene Aniridia NGS Genetic DNA Test