Short Description

NGS genetic DNA test detecets for variant and mutation detection in COG8 gene for Glycosylation disorder type 2H

PreTest Information

Clinical History of Patient who is going for COG8 Gene Glycosylation disorder type 2H NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder type 2H

Detail Description

COG8 Gene Glycosylation Disorder Type 2H: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

COG8 gene glycosylation disorder type 2H is a rare genetic disorder that affects the body's ability to produce and process glycoproteins. Glycoproteins are proteins that have sugar molecules attached to them, and they play a crucial role in many bodily functions, including cell signaling, immune system response, and hormone regulation.

Symptoms of COG8 Gene Glycosylation Disorder Type 2H

The symptoms of COG8 gene glycosylation disorder type 2H can vary depending on the severity of the condition. Some common symptoms include:

• Developmental delays
• Intellectual disability
• Seizures
• Abnormal muscle tone
• Difficulty swallowing
• Abnormal eye movements
• Organ dysfunction
• Abnormal blood clotting

Diagnosing COG8 Gene Glycosylation Disorder Type 2H

COG8 gene glycosylation disorder type 2H is diagnosed through genetic testing. Next-generation sequencing (NGS) genetic DNA testing is the most common method used to diagnose this condition. NGS testing is a comprehensive genetic test that can analyze a large number of genes at once to identify mutations or abnormalities.

To perform an NGS genetic DNA test, a small blood sample is taken from the patient and sent to a laboratory for analysis. The cost of an NGS genetic DNA test for COG8 gene glycosylation disorder type 2H in India is approximately INR 20,000.

Conclusion

COG8 gene glycosylation disorder type 2H is a rare genetic disorder that can cause a range of symptoms, including developmental delays, intellectual disability, seizures, and abnormal muscle tone. The condition is diagnosed through genetic testing, with NGS genetic DNA testing being the most common method. The cost of an NGS genetic DNA test for COG8 gene glycosylation disorder type 2H in India is approximately INR 20,000.

If you suspect that you or a loved one may have COG8 gene glycosylation disorder type 2H, it is important to speak with a healthcare professional for proper diagnosis and treatment.