Short Description

NGS genetic DNA test detecets for variant and mutation detection in CNGA3 gene for Achromatopsia type 2

PreTest Information

Clinical History of Patient who is going for CNGA3 Gene Achromatopsia type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CNGA3 Gene Achromatopsia type 2 NGS Genetic DNA Test gene CNGA3

Detail Description

CNGA3 Gene Achromatopsia type 2 NGS Genetic DNA Test

Achromatopsia type 2 is a rare genetic disorder that affects the ability to see colors. It is caused by mutations in the CNGA3 gene, which is responsible for producing a protein that is essential for normal color vision. People with achromatopsia type 2 have difficulty distinguishing colors and often see the world in shades of gray. Other symptoms may include sensitivity to bright light, poor visual acuity, and nystagmus (involuntary eye movements).

Diagnosis

A diagnosis of achromatopsia type 2 is typically made based on a combination of clinical symptoms and genetic testing. An ophthalmologist or other eye specialist will perform a comprehensive eye exam to assess visual acuity, color vision, and other aspects of eye health. Genetic testing can confirm the presence of mutations in the CNGA3 gene, which is necessary for a definitive diagnosis.

Symptoms

The symptoms of achromatopsia type 2 can vary widely between individuals, but some of the most common include:

• Difficulty distinguishing colors
• Poor visual acuity
• Sensitivity to bright light
• Nystagmus (involuntary eye movements)
• Impaired night vision
• Photophobia (discomfort or pain in response to light)

NGS Genetic DNA Test

NGS Genetic DNA testing is a powerful tool for diagnosing genetic disorders like achromatopsia type 2. This technology allows for the simultaneous analysis of large numbers of genes, making it possible to identify mutations that may be responsible for a patient's symptoms. The CNGA3 gene is included in many NGS genetic testing panels, making it a valuable tool for diagnosing this condition.

Cost

The cost of NGS genetic testing for achromatopsia type 2 can vary depending on the specific panel used and the laboratory performing the test. At DNA Labs India, the cost of the CNGA3 gene achromatopsia type 2 NGS genetic DNA test is INR 20,000.

Conclusion

Achromatopsia type 2 is a rare genetic disorder that can have a significant impact on a person's quality of life. Genetic testing can be a valuable tool for diagnosing this condition and helping patients get the treatment they need. If you or someone you know is experiencing symptoms of achromatopsia type 2, consider talking to a healthcare professional about genetic testing options.

For more information on genetic testing for achromatopsia type 2, contact DNA Labs India today.