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 COG8 Gene Glycosylation disorder type 2H

Detail Description

COG8 Gene Glycosylation Disorder Type 2H NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

COG8 gene glycosylation disorder type 2H is a rare genetic disorder that affects the body's ability to produce and process certain sugars and fats. This disorder is caused by mutations in the COG8 gene, which is responsible for encoding a protein involved in the production of glycoproteins and glycolipids.

Symptoms of COG8 Gene Glycosylation Disorder Type 2H

The symptoms of COG8 gene glycosylation disorder type 2H can vary from person to person and may include:

• Developmental delays or intellectual disability
• Abnormalities in the shape of the head and face
• Seizures
• Abnormal muscle tone and weakness
• Visual impairment or blindness
• Hearing loss
• Difficulty swallowing or feeding
• Recurrent infections

It is important to note that not all individuals with COG8 gene glycosylation disorder type 2H will have all of these symptoms.

Diagnosis of COG8 Gene Glycosylation Disorder Type 2H

Diagnosing COG8 gene glycosylation disorder type 2H typically involves a combination of clinical evaluation, genetic testing, and laboratory testing. A healthcare provider may perform a physical exam and review the individual's medical history to look for symptoms associated with the disorder.

Genetic testing can be used to confirm a diagnosis of COG8 gene glycosylation disorder type 2H. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once and can identify mutations in the COG8 gene. This type of testing can also help to identify other genetic changes that may be contributing to the individual's symptoms.

Cost of COG8 Gene Glycosylation Disorder Type 2H NGS Genetic DNA Test

The cost of the COG8 gene glycosylation disorder type 2H NGS genetic DNA test in India is approximately INR 20,000. The cost may vary depending on the specific testing facility and any additional testing that may be required.

Conclusion

COG8 gene glycosylation disorder type 2H is a rare genetic disorder that can cause a range of symptoms, including developmental delays, seizures, and visual impairment. Diagnosis typically involves a combination of clinical evaluation, genetic testing, and laboratory testing. Next-generation sequencing (NGS) is a type of genetic testing that can be used to identify mutations in the COG8 gene. The cost of the COG8 gene glycosylation disorder type 2H NGS genetic DNA test in India is approximately INR 20,000.

If you or a loved one are experiencing symptoms associated with COG8 gene glycosylation disorder type 2H, it is important to speak with a healthcare provider and consider genetic testing to confirm a diagnosis.