Short Description

NGS genetic DNA test detecets for variant and mutation detection in C21orf2 gene for Cone-rod dystrophy, C21orf2 related

PreTest Information

Clinical History of Patient who is going for C21orf2 Gene Cone-rod dystrophy, C21orf2 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with C21orf2 Gene Cone-rod dystrophy, C21orf2 related NGS Genetic DNA Test gene C21orf2

Detail Description

C21orf2 Gene Cone-rod dystrophy: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

Cone-rod dystrophy (CRD) is a rare genetic eye disorder that affects the cone and rod cells of the retina. C21orf2 gene is one of the genes associated with CRD. CRD caused by mutations in the C21orf2 gene is called C21orf2-related CRD.

Symptoms of C21orf2-related CRD

The symptoms of C21orf2-related CRD usually appear in childhood or adolescence. The first symptom is usually decreased visual acuity, followed by color vision abnormalities and sensitivity to bright light. As the disease progresses, night blindness, peripheral vision loss, and central vision loss may occur. In some cases, patients may experience nystagmus (involuntary eye movements) and photophobia (sensitivity to light).

Diagnosis of C21orf2-related CRD

C21orf2-related CRD is diagnosed through a thorough eye examination, which includes visual acuity testing, visual field testing, color vision testing, and electroretinography (ERG). Genetic testing is also recommended to confirm the diagnosis and identify the specific mutation in the C21orf2 gene.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for C21orf2-related CRD in India is approximately INR 20,000. This test can be performed on a blood or saliva sample and can identify mutations in the C21orf2 gene with high accuracy.

Conclusion

C21orf2-related CRD is a rare genetic eye disorder that can cause significant visual impairment. Early diagnosis through a comprehensive eye exam and genetic testing can help patients receive appropriate treatment and manage their symptoms effectively.

At DNA Labs India, we offer NGS genetic DNA testing for C21orf2-related CRD and other genetic eye disorders. Our team of experts is dedicated to providing accurate and timely results to help patients and their families make informed decisions about their health.

Contact us today to learn more about our genetic testing services.