Short Description

NGS genetic DNA test detecets for variant and mutation detection in ARX gene for Early infantile epileptic encephalopathy type 1

PreTest Information

Clinical History of Patient who is going for ARX Gene Early infantile epileptic encephalopathy type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ARX Gene Early infantile epileptic encephalopathy type 1

Detail Description

ARX Gene Early Infantile Epileptic Encephalopathy Type 1 NGS Genetic DNA Test Cost INR: 20,000 Symptoms Diagnosis

Early Infantile Epileptic Encephalopathy (EIEE) is a rare genetic disorder that affects infants and young children. It is characterized by seizures that begin in the first year of life, as well as developmental delays and intellectual disability. One of the genes associated with EIEE is the ARX gene. The ARX gene provides instructions for making a protein that plays a critical role in the development of the brain. Mutations in this gene have been linked to EIEE type 1.

Symptoms of ARX Gene EIEE Type 1

The symptoms of ARX Gene EIEE Type 1 can vary from one person to another. However, some of the most common symptoms include:

• Seizures that start in the first year of life
• Intellectual disability
• Developmental delays
• Low muscle tone (hypotonia)
• Spasticity
• Involuntary muscle contractions (dystonia)
• Abnormal movements
• Difficulty swallowing (dysphagia)
• Abnormal curvature of the spine (scoliosis)

Diagnosis of ARX Gene EIEE Type 1

Diagnosing ARX Gene EIEE Type 1 can be challenging, as the symptoms can be similar to other types of epilepsy. However, a genetic test can help confirm the diagnosis. The most common genetic test used to diagnose ARX Gene EIEE Type 1 is Next Generation Sequencing (NGS). This test can identify mutations in the ARX gene, which can help confirm the diagnosis.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA test for ARX Gene EIEE Type 1 in India is approximately INR 20,000. The cost may vary depending on the testing facility and the location.

Conclusion

ARX Gene EIEE Type 1 is a rare genetic disorder that affects infants and young children. It is characterized by seizures that begin in the first year of life, as well as developmental delays and intellectual disability. A genetic test, such as NGS, can help confirm the diagnosis of ARX Gene EIEE Type 1. The cost of NGS genetic DNA test for ARX Gene EIEE Type 1 in India is approximately INR 20,000. If you suspect that your child may have ARX Gene EIEE Type 1, it is important to consult a genetic counselor or a healthcare provider who can provide guidance on testing and treatment options.