Short Description

NGS genetic DNA test detecets for variant and mutation detection in AARS1 gene for Early infantile epileptic encephalopathy type 29

PreTest Information

Clinical History of Patient who is going for AARS1 Gene Early infantile epileptic encephalopathy type 29 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AARS1 Gene Early infantile epileptic encephalopathy type 29

Detail Description

AARS1 Gene Early Infantile Epileptic Encephalopathy Type 29 NGS Genetic DNA Test

Early infantile epileptic encephalopathy type 29 is a rare genetic disorder that affects the nervous system. It is caused by mutations in the AARS1 gene. The AARS1 gene provides instructions for making an enzyme called alanyl-tRNA synthetase, which is essential for the production of proteins. Mutations in the AARS1 gene disrupt the normal function of the enzyme, leading to a buildup of toxic substances in the brain that cause seizures and other neurological problems.

Symptoms

The symptoms of early infantile epileptic encephalopathy type 29 can vary widely from person to person. Some common symptoms include:

• Seizures that begin in infancy
• Poor muscle tone
• Developmental delays
• Intellectual disability
• Abnormal movements
• Difficulty with coordination
• Speech problems

Diagnosis

Diagnosing early infantile epileptic encephalopathy type 29 can be challenging, as the symptoms can be similar to those of other neurological disorders. A genetic test is the most reliable way to confirm a diagnosis of early infantile epileptic encephalopathy type 29. The AARS1 gene NGS genetic DNA test analyzes the DNA sequence of the AARS1 gene to identify any mutations that may be causing the disorder.

Cost

The cost of the AARS1 gene NGS genetic DNA test in India is approximately INR 20,000. This cost may vary depending on the laboratory and location where the test is performed.

Conclusion

Early infantile epileptic encephalopathy type 29 is a rare genetic disorder that can cause seizures and other neurological problems. A genetic test is the most reliable way to confirm a diagnosis of the disorder. The AARS1 gene NGS genetic DNA test can identify mutations in the AARS1 gene that may be causing the disorder. The cost of the test in India is approximately INR 20,000. If you or a loved one is experiencing symptoms of early infantile epileptic encephalopathy type 29, it is important to speak with a healthcare professional to determine the best course of action.

For more information on genetic testing and DNA labs in India, contact DNA Labs India.