Short Description

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

PreTest Information

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

Detail Description

MOGS Gene Glycosylation Disorder Type 2B NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

MOGS gene glycosylation disorder type 2B is a rare genetic disorder that affects the glycosylation process. Glycosylation is the process in which sugar molecules are added to proteins and lipids in the body, to create glycoproteins and glycolipids. These play a vital role in cell signaling and communication, and any disruption in the glycosylation process can lead to various health problems.

Symptoms of MOGS gene glycosylation disorder type 2B include developmental delay, intellectual disability, seizures, abnormal facial features, and failure to thrive. These symptoms usually appear in infancy or early childhood.

Diagnosis of MOGS gene glycosylation disorder type 2B can be done through genetic testing. Next-generation sequencing (NGS) is the most common method of testing for this disorder. NGS is a high-throughput method that allows for the simultaneous analysis of multiple genes. The cost of NGS genetic DNA testing for MOGS gene glycosylation disorder type 2B in India is approximately INR 20,000.

It is important to diagnose MOGS gene glycosylation disorder type 2B early, as there is currently no cure for the disorder. Treatment usually focuses on managing symptoms and providing supportive care. This may include physical therapy, speech therapy, and medications to control seizures and other symptoms.

In conclusion, MOGS gene glycosylation disorder type 2B is a rare genetic disorder that affects the glycosylation process and can lead to various health problems. Genetic testing, specifically NGS, is the most common method of diagnosis, with a cost of approximately INR 20,000 in India. Early diagnosis is important in managing symptoms and providing supportive care.