Short Description

NGS genetic DNA test detecets for variant and mutation detection in COG6 gene for Glycosylation disorder type 3

PreTest Information

Clinical History of Patient who is going for COG6 Gene Glycosylation disorder type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder type 3

Detail Description

COG6 Gene Glycosylation Disorder Type 3 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

COG6 gene glycosylation disorder type 3 is a rare genetic disorder that affects the way the body processes sugars. It is caused by mutations in the COG6 gene, which is responsible for producing a protein that helps transport sugars to different parts of the body. Without this protein, sugars accumulate in the body, leading to a range of symptoms.

Symptoms

The symptoms of COG6 gene glycosylation disorder type 3 can vary widely from person to person. Some of the most common symptoms include:

• Developmental delay
• Intellectual disability
• Seizures
• Abnormal muscle tone
• Abnormal facial features
• Failure to thrive
• Gastrointestinal issues

Some people with the condition may also experience vision problems, hearing loss, or problems with their immune system.

Diagnosis

COG6 gene glycosylation disorder type 3 is diagnosed using a genetic test called next-generation sequencing (NGS). This test looks for mutations in the COG6 gene that are associated with the disorder. The test can be performed on a blood or saliva sample.

If a mutation is found, additional testing may be needed to confirm the diagnosis and assess the severity of the condition. This may include imaging tests, such as an MRI, to look for structural abnormalities in the brain.

Cost

The cost of a COG6 gene glycosylation disorder type 3 NGS genetic DNA test in India is approximately INR 20,000. However, the cost may vary depending on the laboratory or healthcare provider conducting the test.

Conclusion

COG6 gene glycosylation disorder type 3 is a rare genetic disorder that can cause a range of symptoms, including developmental delay, intellectual disability, and seizures. It is diagnosed using a genetic test called next-generation sequencing (NGS), which can be performed on a blood or saliva sample. The cost of the test in India is approximately INR 20,000.

If you or a loved one are experiencing symptoms of COG6 gene glycosylation disorder type 3, it is important to speak with a healthcare provider or genetic counselor. They can help determine if genetic testing is appropriate and provide guidance on management and treatment options.