Short Description

NGS genetic DNA test detecets for variant and mutation detection in AMT gene for Glycine encephalopathy

PreTest Information

Clinical History of Patient who is going for AMT Gene Glycine encephalopathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AMT Gene Glycine encephalopathy

Detail Description

AMT Gene Glycine Encephalopathy NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Glycine encephalopathy is a rare genetic disorder that affects the nervous system. It is caused by mutations in the AMT gene, which provides instructions for making an enzyme called aminomethyltransferase. This enzyme is involved in the breakdown of glycine, an amino acid that is essential for the proper functioning of the nervous system.

Glycine encephalopathy can cause a range of symptoms, including seizures, developmental delay, intellectual disability, and problems with movement and coordination. The severity of the symptoms can vary widely from person to person, even among those with the same genetic mutation.

Diagnosis of Glycine Encephalopathy

Diagnosis of glycine encephalopathy is typically done through genetic testing. Specifically, a next-generation sequencing (NGS) genetic test can be used to look for mutations in the AMT gene. This test involves analyzing a person's DNA to identify any genetic mutations that may be causing their symptoms.

The cost of an NGS genetic test for glycine encephalopathy can vary depending on the laboratory and the country in which it is performed. In India, DNA Labs India offers an NGS genetic test for glycine encephalopathy at a cost of INR 20,000.

Symptoms of Glycine Encephalopathy

The symptoms of glycine encephalopathy can vary widely from person to person. Some common symptoms include:

• Seizures
• Developmental delay
• Intellectual disability
• Problems with movement and coordination
• Low muscle tone
• Difficulty feeding
• Respiratory problems

Symptoms can appear at any time from infancy to adulthood. In some cases, symptoms may be present at birth, while in others, they may not appear until later in life.

Treatment of Glycine Encephalopathy

There is currently no cure for glycine encephalopathy. Treatment is focused on managing the symptoms and improving quality of life. This may include medications to control seizures, physical therapy to improve movement and coordination, and nutritional support to ensure adequate glycine intake.

Conclusion

Glycine encephalopathy is a rare genetic disorder that can cause a range of symptoms affecting the nervous system. Diagnosis is typically done through genetic testing, and an NGS genetic test can be used to look for mutations in the AMT gene. The cost of an NGS genetic test for glycine encephalopathy in India is INR 20,000. While there is currently no cure for glycine encephalopathy, treatment is focused on managing symptoms and improving quality of life.

For more information on genetic testing for glycine encephalopathy, contact DNA Labs India.

Glycine encephalopathy, also known as non-ketotic hyperglycinemia (NKH), is a rare genetic disorder characterized by the accumulation of glycine in the brain and other tissues. This disorder is caused by mutations in the AMT gene, which encodes the enzyme aminomethyltransferase (AMT). The AMT enzyme is involved in the breakdown of glycine in the body.