Short Description

NGS genetic DNA test detecets for variant and mutation detection in COG4 gene for Glycosylation disorder type 2J

PreTest Information

Clinical History of Patient who is going for COG4 Gene Glycosylation disorder type 2J NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder type 2J

Detail Description

COG4 Gene Glycosylation Disorder Type 2J NGS Genetic DNA Test

COG4 gene glycosylation disorder type 2J is a rare genetic disorder that affects the body's ability to properly glycosylate proteins. This disorder is caused by mutations in the COG4 gene, which is responsible for the production of a protein that is involved in the glycosylation process. Glycosylation is the process of attaching sugar molecules to proteins, which is important for their proper function.

Individuals with COG4 gene glycosylation disorder type 2J experience a range of symptoms, including developmental delay, intellectual disability, seizures, and abnormal facial features. These symptoms can vary in severity and may not be present in all individuals with the disorder.

Symptoms

The symptoms of COG4 gene glycosylation disorder type 2J can vary from person to person, but may include:

• Developmental delay
• Intellectual disability
• Seizures
• Abnormal facial features

Other symptoms may include failure to thrive, difficulty feeding, and recurrent infections.

Diagnosis

COG4 gene glycosylation disorder type 2J can be diagnosed through genetic testing. Next-generation sequencing (NGS) genetic DNA testing is the most effective way to diagnose this disorder. NGS is a high-throughput DNA sequencing technology that can quickly and accurately identify mutations in the COG4 gene.

Diagnosis may also involve a physical examination, medical history review, and other tests, such as blood tests and imaging tests.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for COG4 gene glycosylation disorder type 2J in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and other factors.

Conclusion

COG4 gene glycosylation disorder type 2J is a rare genetic disorder that can cause a range of symptoms, including developmental delay, intellectual disability, seizures, and abnormal facial features. Diagnosis can be made through NGS genetic DNA testing, which typically costs around INR 20,000 in India. If you or a loved one are experiencing symptoms of COG4 gene glycosylation disorder type 2J, it is important to seek medical attention and genetic testing to receive an accurate diagnosis and appropriate treatment.

At DNA Labs India, we offer NGS genetic DNA testing for COG4 gene glycosylation disorder type 2J and many other genetic disorders. Contact us today to learn more about our testing services and how we can help you and your family.