Short Description

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

PreTest Information

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

Detail Description

GLDC Gene Glycine Encephalopathy NGS Genetic DNA Test

GLDC gene glycine encephalopathy is a rare genetic disorder that affects the nervous system. It is caused by mutations in the GLDC gene, which provides instructions for making an enzyme called glycine decarboxylase. This enzyme is essential for breaking down glycine, an amino acid that plays a key role in the brain and nervous system.

People with GLDC gene glycine encephalopathy are unable to break down glycine properly, which leads to a buildup of this amino acid in the brain and other organs. This can cause a range of symptoms, including developmental delay, seizures, muscle stiffness, and breathing problems.

Symptoms of GLDC Gene Glycine Encephalopathy

The symptoms of GLDC gene glycine encephalopathy can vary widely from person to person. Some people may have only mild symptoms, while others may be severely affected. The most common symptoms of this condition include:

• Developmental delay
• Seizures
• Muscle stiffness
• Difficulty breathing
• Abnormal eye movements
• Low muscle tone
• Feeding difficulties

Diagnosis of GLDC Gene Glycine Encephalopathy

Diagnosing GLDC gene glycine encephalopathy can be challenging, as the symptoms are similar to those of other neurological disorders. However, genetic testing can confirm a diagnosis. This involves analyzing a person's DNA to look for mutations in the GLDC gene.

The most common type of genetic testing for GLDC gene glycine encephalopathy is called next-generation sequencing (NGS). This technique allows doctors to analyze multiple genes at once, which can be helpful in cases where the diagnosis is uncertain.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for GLDC gene glycine encephalopathy in India is typically around INR 20,000. This may vary depending on the specific testing facility and any additional testing that may be required.

Conclusion

GLDC gene glycine encephalopathy is a rare genetic disorder that can cause a range of symptoms, including developmental delay, seizures, and muscle stiffness. Genetic testing, such as NGS, can confirm a diagnosis and help guide treatment. If you or someone you know is experiencing symptoms of this condition, it is important to speak with a healthcare professional to determine the best course of action.

At DNA Labs India, we offer a range of genetic testing services to help diagnose and manage rare genetic disorders like GLDC gene glycine encephalopathy. Our team of experienced genetic counselors and scientists can help guide you through the testing process and provide support every step of the way.

Contact us today to learn more about our services and how we can help you and your family.