Short Description

NGS genetic DNA test detecets for variant and mutation detection in CHM gene for Choroideremia

PreTest Information

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

Detail Description

CHM Gene Choroideremia NGS Genetic DNA Test Cost: INR 20,000

Choroideremia (CHM) is a rare, X-linked inherited disease that results in progressive vision loss. It affects the retina, which is the part of the eye that detects light and sends visual signals to the brain. CHM is caused by mutations in the CHM gene, which provides instructions for making a protein called Rab escort protein 1 (REP1). This protein is important for the normal functioning of cells in the retina and other tissues.

Symptoms of CHM

Signs and symptoms of CHM usually begin in childhood or adolescence and worsen over time. The first symptom is usually night blindness, which is difficulty seeing in low light conditions. This is followed by a loss of peripheral vision, or the ability to see objects at the side of the visual field. As the disease progresses, central vision is also affected, which can lead to blindness.

Diagnosis of CHM

CHM is diagnosed through a comprehensive eye exam, including visual acuity, visual field testing, and imaging of the retina. Genetic testing may also be recommended to confirm the diagnosis and identify the specific mutation in the CHM gene. This can be done through Next Generation Sequencing (NGS) Genetic DNA testing.

NGS Genetic DNA Test Cost

The cost of NGS Genetic DNA testing for CHM gene mutation is INR 20,000. This test can identify the specific mutation in the CHM gene and help with accurate diagnosis and prognosis of the disease. It can also provide information for genetic counseling and family planning.

Conclusion

CHM is a rare, inherited disease that causes progressive vision loss. Early diagnosis and genetic testing can help with accurate diagnosis and prognosis of the disease. NGS Genetic DNA testing for CHM gene mutation is available at DNA Labs India at a cost of INR 20,000. If you or someone you know is experiencing symptoms of CHM, it is important to seek medical attention and genetic testing.