Short Description

NGS genetic DNA test detecets for variant and mutation detection in CRX gene for Cone-rod dystrophy type 2

PreTest Information

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

Detail Description

CRX Gene Cone-Rod Dystrophy Type 2 NGS Genetic DNA Test

Cone-Rod Dystrophy Type 2 (CRD2) is a rare genetic disorder that affects the retina, a layer of tissue at the back of the eye that is responsible for vision. This disorder is caused by mutations in the CRX gene, which provides instructions for making a protein that is essential for the development and maintenance of the retina.

NGS Genetic DNA Testing is a powerful tool that can be used to identify mutations in the CRX gene. This test is performed using Next Generation Sequencing (NGS) technology, which allows for the rapid and accurate sequencing of large amounts of DNA.

Symptoms of CRD2

The symptoms of CRD2 typically begin in childhood or adolescence and include:

• Decreased visual acuity
• Loss of color vision
• Difficulty seeing in low light conditions
• Progressive loss of peripheral vision
• Night blindness

These symptoms can vary in severity and may progress at different rates in different individuals.

Diagnosis of CRD2

Diagnosis of CRD2 typically involves a comprehensive eye exam, including a visual acuity test, color vision test, and visual field test. Genetic testing may also be used to confirm the diagnosis and identify the specific mutation in the CRX gene.

NGS Genetic DNA Test Cost

The cost of the CRX Gene Cone-Rod Dystrophy Type 2 NGS Genetic DNA Test in India is typically around INR 20,000. This cost may vary depending on the specific testing facility and any additional services that may be required.

Conclusion

NGS Genetic DNA Testing is a powerful tool for identifying mutations in the CRX gene, which can lead to a diagnosis of Cone-Rod Dystrophy Type 2. If you are experiencing symptoms of this disorder or have a family history of the condition, it is important to speak with a healthcare provider about diagnostic testing options.

At DNA Labs India, we offer a range of genetic testing services, including NGS Genetic DNA Testing for CRD2. Contact us today to learn more about our services and how we can help you get the answers you need.