Short Description

NGS genetic DNA test detecets for variant and mutation detection in PAX6 gene for Coloboma of optic nerve

PreTest Information

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

Detail Description

PAX6 Gene Coloboma of Optic Nerve NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

Coloboma of the optic nerve is a rare eye condition that can cause vision loss. It is caused by a genetic mutation in the PAX6 gene. The PAX6 gene is responsible for the development of the eyes and the nervous system. When there is a mutation in this gene, it can cause the optic nerve to not develop properly, leading to coloboma.

Symptoms of Coloboma of the Optic Nerve

The symptoms of coloboma of the optic nerve can vary depending on the severity of the condition. Some common symptoms include:

• Vision loss
• Blurred vision
• Nystagmus (involuntary eye movement)
• Strabismus (crossed eyes)
• Photophobia (sensitivity to light)

It is important to note that not all individuals with coloboma of the optic nerve will experience the same symptoms. Some may have mild symptoms, while others may have severe symptoms that significantly impact their daily lives.

Diagnosis of Coloboma of the Optic Nerve

Coloboma of the optic nerve is typically diagnosed through a comprehensive eye exam. The eye doctor will examine the eyes and look for any abnormalities in the optic nerve. They may also perform a visual acuity test to determine how well the individual can see.

If coloboma of the optic nerve is suspected, genetic testing may be recommended to confirm the diagnosis. This is done through a NGS genetic DNA test, which analyzes the individual's DNA for mutations in the PAX6 gene.

Cost of NGS Genetic DNA Test for Coloboma of the Optic Nerve

The cost of the NGS genetic DNA test for coloboma of the optic nerve can vary depending on the testing facility. At DNA Labs India, the cost of the test is INR 20,000.

It is important to note that this cost may not be covered by insurance, so individuals should check with their insurance provider before undergoing genetic testing.

Conclusion

Coloboma of the optic nerve is a rare eye condition that can cause vision loss. It is caused by a genetic mutation in the PAX6 gene. Symptoms can vary, but may include vision loss, blurred vision, and sensitivity to light. Diagnosis is typically done through a comprehensive eye exam, and genetic testing may be recommended to confirm the diagnosis. The cost of the NGS genetic DNA test for coloboma of the optic nerve at DNA Labs India is INR 20,000.

If you are experiencing symptoms of coloboma of the optic nerve, it is important to see an eye doctor for a comprehensive eye exam. They can help determine the cause of your symptoms and recommend appropriate treatment options.

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 Coloboma of optic nerve NGS Genetic DNA Test