Short Description

NGS genetic DNA test detecets for variant and mutation detection in COG7 gene for Glycosylation disorder type 2E

PreTest Information

Clinical History of Patient who is going for COG7 Gene Glycosylation disorder type 2E NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder type 2E

Detail Description

COG7 Gene Glycosylation Disorder Type 2E: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost at DNA Labs India

COG7 gene glycosylation disorder type 2E is a rare genetic disorder that affects the glycosylation process in the body. Glycosylation is the process of adding a sugar molecule to proteins or lipids, which is essential for their proper functioning. COG7 gene glycosylation disorder type 2E is caused by a mutation in the COG7 gene, which is responsible for the production of a protein that is involved in the glycosylation process.

Symptoms of COG7 Gene Glycosylation Disorder Type 2E

The symptoms of COG7 gene glycosylation disorder type 2E can vary from person to person. Some of the common symptoms include:

• Failure to thrive
• Developmental delay
• Intellectual disability
• Seizures
• Abnormal facial features
• Muscle weakness
• Abnormal liver function
• Recurrent infections

These symptoms can appear in infancy or early childhood and can worsen over time.

Diagnosis of COG7 Gene Glycosylation Disorder Type 2E

COG7 gene glycosylation disorder type 2E can be diagnosed through genetic testing. Next-generation sequencing (NGS) genetic DNA testing is a type of genetic testing that can analyze multiple genes at once. This type of testing can help identify the specific genetic mutation that is causing the disorder.

The diagnostic process may also include a physical examination, medical history review, and other tests to rule out other conditions with similar symptoms.

NGS Genetic DNA Test Cost at DNA Labs India

The cost of NGS genetic DNA testing for COG7 gene glycosylation disorder type 2E at DNA Labs India is INR 20,000. This cost includes the test itself as well as any necessary counseling and support services.

NGS genetic DNA testing can provide valuable information about the genetic mutations that are causing a particular disorder. This information can be used to develop personalized treatment plans and improve patient outcomes.

Conclusion

COG7 gene glycosylation disorder type 2E is a rare genetic disorder that can cause a range of symptoms. Genetic testing, including NGS genetic DNA testing, can help diagnose the disorder and provide valuable information for developing treatment plans. DNA Labs India offers NGS genetic DNA testing for COG7 gene glycosylation disorder type 2E at a cost of INR 20,000.

If you or a loved one is experiencing symptoms of COG7 gene glycosylation disorder type 2E, it is important to seek medical attention and consider genetic testing to determine the underlying cause of the symptoms.