Short Description

NGS genetic DNA test detecets for variant and mutation detection in GNAO1 gene for Early infantile epileptic encephalopathy type 17

PreTest Information

Clinical History of Patient who is going for GNAO1 Gene Early infantile epileptic encephalopathy type 17 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GNAO1 Gene Early infantile epileptic encephalopathy type 17

Detail Description

Understanding GNAO1 Gene and Early Infantile Epileptic Encephalopathy Type 17

GNAO1 gene is a protein-coding gene that is responsible for encoding the alpha subunit of the G protein complex. This gene is located on chromosome 7 and plays a crucial role in the functioning of the nervous system. Mutations in the GNAO1 gene have been associated with a rare genetic disorder known as Early Infantile Epileptic Encephalopathy Type 17 (EIEE17).

EIEE17 is a severe form of epilepsy that typically begins in the first few months of life. Infants with this condition may experience seizures that are difficult to control with medication. The seizures can cause developmental delays, intellectual disability, and other neurological problems.

Symptoms of EIEE17

The symptoms of EIEE17 can vary from person to person, but some of the most common symptoms include:

• Seizures that are difficult to control with medication
• Developmental delays
• Intellectual disability
• Speech and language delays
• Muscle weakness or stiffness
• Abnormal movements
• Behavioral problems

Diagnosis of EIEE17

Diagnosing EIEE17 can be challenging, as the symptoms can be similar to other types of epilepsy and neurological disorders. A doctor may use a combination of tests to diagnose EIEE17, including:

• Electroencephalogram (EEG) to measure brain activity
• Magnetic resonance imaging (MRI) to look for structural abnormalities in the brain
• Genetic testing to look for mutations in the GNAO1 gene

NGS Genetic DNA Test for EIEE17

The most accurate way to diagnose EIEE17 is through genetic testing. Next-Generation Sequencing (NGS) is a powerful tool that can be used to analyze the entire GNAO1 gene and identify any mutations that may be present. This test can also be used to identify mutations in other genes that may be associated with epilepsy and other neurological disorders.

Cost of NGS Genetic DNA Test for EIEE17

The cost of the NGS Genetic DNA Test for EIEE17 in India is approximately INR 20,000. This test is available at DNA Labs India, a leading provider of genetic testing services in India. DNA Labs India uses state-of-the-art technology and a team of highly trained geneticists to provide accurate and reliable test results.

Conclusion

EIEE17 is a rare but severe form of epilepsy that can have a significant impact on a child's development and quality of life. Genetic testing is the most accurate way to diagnose this condition, and the NGS Genetic DNA Test is a powerful tool that can help identify mutations in the GNAO1 gene and other genes that may be associated with epilepsy and other neurological disorders. If you suspect that your child may have EIEE17, it is essential to speak with a doctor and consider genetic testing to get an accurate diagnosis and appropriate treatment.

For more information on the NGS Genetic DNA Test for EIEE17 or other genetic testing services, contact DNA Labs India today.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for GNAO1 Gene Early infantile epileptic encephalopathy type 17 NGS Genetic DNA Test