Short Description

NGS genetic DNA test detecets for variant and mutation detection in DPM2 gene for Glycosylation disorder type 1U

PreTest Information

Clinical History of Patient who is going for DPM2 Gene Glycosylation disorder type 1U NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder type 1U

Detail Description

DPM2 Gene Glycosylation Disorder Type 1U: Symptoms, Diagnosis, and DNA Test Cost

DPM2 gene glycosylation disorder type 1U is a rare genetic disorder that affects the way our body processes sugars. It is caused by mutations in the DPM2 gene, which provides instructions for making an enzyme that is involved in the glycosylation process.

Glycosylation is a process in which sugars are added to proteins and lipids to form complex molecules that are essential for many biological functions. In individuals with DPM2 gene glycosylation disorder type 1U, the glycosylation process is disrupted, leading to a range of symptoms and health problems.

Symptoms of DPM2 Gene Glycosylation Disorder Type 1U

The symptoms of DPM2 gene glycosylation disorder type 1U can vary widely, depending on the severity of the condition and the age at which it first appears. Some common symptoms include:

• Developmental delays
• Intellectual disability
• Muscle weakness and hypotonia (low muscle tone)
• Seizures
• Abnormalities in the shape and function of the brain
• Abnormalities in the liver and kidneys
• Abnormalities in the eyes and vision
• Immune system dysfunction

Some individuals with DPM2 gene glycosylation disorder type 1U may also experience recurrent infections, digestive problems, and other health issues.

Diagnosis of DPM2 Gene Glycosylation Disorder Type 1U

DPM2 gene glycosylation disorder type 1U is typically diagnosed through genetic testing, which can detect mutations in the DPM2 gene. Other diagnostic tests may include blood tests, imaging studies, and evaluations by specialists in neurology, genetics, and other fields.

If you suspect that you or a loved one may have DPM2 gene glycosylation disorder type 1U, it is important to seek medical attention as soon as possible. Early diagnosis and treatment can help to minimize the symptoms and complications of the condition.

DNA Test Cost for DPM2 Gene Glycosylation Disorder Type 1U

The cost of DNA testing for DPM2 gene glycosylation disorder type 1U can vary depending on the specific test being used, the laboratory performing the test, and other factors. In India, the cost of a next-generation sequencing (NGS) genetic DNA test for DPM2 gene glycosylation disorder type 1U typically ranges from INR 15,000 to INR 25,000.

It is important to note that DNA testing may not be covered by insurance, and out-of-pocket costs can be significant. However, many laboratories and testing providers offer financing options and other forms of assistance to help make testing more affordable.

Conclusion

DPM2 gene glycosylation disorder type 1U is a rare genetic disorder that can have a significant impact on the health and well-being of affected individuals. If you or a loved one are experiencing symptoms of DPM2 gene glycosylation disorder type 1U, it is important to seek medical attention and consider genetic testing as part of the diagnostic process.

With early diagnosis and treatment, individuals with DPM2 gene glycosylation disorder type 1U can receive the care and support they need to manage their symptoms and improve their quality of life.