Short Description

NGS genetic DNA test detecets for variant and mutation detection in ETHE1 gene for Ethylmalonic encephalopathy

PreTest Information

Clinical History of Patient who is going for ETHE1 Gene Ethylmalonic encephalopathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ETHE1 Gene Ethylmalonic encephalopathy

Detail Description

ETHE1 Gene Ethylmalonic Encephalopathy NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

ETHE1 gene is responsible for the production of a protein that helps in the breaking down of certain amino acids in the body. Ethylmalonic encephalopathy is a rare genetic disorder that results from the mutations in the ETHE1 gene. This disorder affects the nervous system, leading to developmental delay, seizures, and muscle weakness.

Symptoms of Ethylmalonic Encephalopathy

The symptoms of ethylmalonic encephalopathy vary from person to person. Some of the common symptoms of this disorder include:

• Developmental delay
• Seizures
• Muscle weakness
• Loss of muscle tone
• Ataxia
• Abnormal movements

Diagnosis of Ethylmalonic Encephalopathy

The diagnosis of ethylmalonic encephalopathy involves a combination of clinical examination, imaging studies, and genetic testing. The doctor will perform a physical exam to look for the symptoms of this disorder. They may also order imaging studies, such as an MRI or CT scan, to look for abnormalities in the brain.

Genetic testing is the most reliable method for the diagnosis of ethylmalonic encephalopathy. Next-generation sequencing (NGS) genetic DNA testing is a highly accurate and efficient method for detecting mutations in the ETHE1 gene. This test involves the sequencing of the entire ETHE1 gene to identify any mutations that may be present.

Cost of NGS Genetic DNA Test for Ethylmalonic Encephalopathy

The cost of NGS genetic DNA testing for ethylmalonic encephalopathy in India is around INR 20,000. However, the cost may vary depending on the testing facility and the location.

Conclusion

Ethylmalonic encephalopathy is a rare genetic disorder that affects the nervous system and leads to developmental delay, seizures, and muscle weakness. Genetic testing is the most reliable method for the diagnosis of this disorder, and NGS genetic DNA testing is an efficient and accurate method for detecting mutations in the ETHE1 gene. The cost of NGS genetic DNA testing for ethylmalonic encephalopathy in India is around INR 20,000.

It is important to diagnose this disorder early to ensure proper treatment and management. DNA Labs India offers NGS genetic DNA testing for ethylmalonic encephalopathy and other genetic disorders. Contact us today for more information.