Short Description

NGS genetic DNA test detecets for variant and mutation detection in GRIN2D gene for Early infantile epileptic encephalopathy type 46

PreTest Information

Clinical History of Patient who is going for GRIN2D Gene Early infantile epileptic encephalopathy type 46 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GRIN2D Gene Early infantile epileptic encephalopathy type 46

Detail Description

GRIN2D Gene Early Infantile Epileptic Encephalopathy Type 46 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Early infantile epileptic encephalopathy type 46 (EIEE46) is a rare genetic disorder that affects the brain and causes seizures. This disorder is caused by mutations in the GRIN2D gene, which provides instructions for making a protein that is involved in the communication between nerve cells in the brain. The seizures associated with EIEE46 typically begin in the first few months of life and can be difficult to control with medication.

If you suspect that your child has EIEE46, it is important to get a diagnosis as soon as possible. One way to do this is through a genetic DNA test that looks for mutations in the GRIN2D gene. DNA Labs India offers such a test at a cost of INR 20000.

Symptoms of EIEE46

The symptoms of EIEE46 can vary from person to person, but generally include:

• Recurrent seizures that may be difficult to control
• Delayed development or intellectual disability
• Abnormal muscle tone or movements
• Difficulty with feeding or swallowing
• Abnormal brain activity on an electroencephalogram (EEG)

If your child is exhibiting any of these symptoms, it is important to talk to a doctor as soon as possible to determine if genetic testing is appropriate.

Diagnosis of EIEE46

The diagnosis of EIEE46 typically involves a combination of clinical evaluation, genetic testing, and EEG monitoring. A doctor will perform a physical examination and ask about your child's medical history and symptoms. They may also order an EEG to look for abnormal brain activity. Genetic testing is the most definitive way to diagnose EIEE46, and can be done through a blood or saliva sample.

NGS Genetic DNA Test for EIEE46

The NGS genetic DNA test offered by DNA Labs India looks for mutations in the GRIN2D gene that are associated with EIEE46. This test is done using next-generation sequencing (NGS) technology, which allows for the analysis of multiple genes at once. The test requires a blood or saliva sample from the patient, which is then analyzed in a laboratory.

Cost of the NGS Genetic DNA Test

The cost of the NGS genetic DNA test for EIEE46 at DNA Labs India is INR 20000. This includes the cost of the test itself as well as any necessary counseling and support services.

Conclusion

If you suspect that your child has EIEE46, it is important to get a diagnosis as soon as possible. The NGS genetic DNA test offered by DNA Labs India is an effective way to determine if your child has a mutation in the GRIN2D gene that is associated with EIEE46. With a cost of INR 20000, this test is an affordable option for families who are seeking answers about their child's health.

At DNA Labs India, we are committed to providing accurate and reliable genetic testing services to our clients. Contact us today to learn more about our NGS genetic DNA test for EIEE46.

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 GRIN2D Gene Early infantile epileptic encephalopathy type 46 NGS Genetic DNA Test