Short Description

NGS genetic DNA test detecets for variant and mutation detection in KCNQ2 gene for Early infantile epileptic encephalopathy type 7

PreTest Information

Clinical History of Patient who is going for KCNQ2 Gene Early infantile epileptic encephalopathy type 7 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with KCNQ2 Gene Early infantile epileptic encephalopathy type 7

Detail Description

KCNQ2 Gene Early Infantile Epileptic Encephalopathy Type 7 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Early infantile epileptic encephalopathy (EIEE) is a severe neurological disorder that affects infants in their first year of life. It is characterized by frequent seizures, developmental delays, and intellectual disability. EIEE type 7, also known as KCNQ2-related epileptic encephalopathy, is caused by mutations in the KCNQ2 gene. The KCNQ2 gene provides instructions for making a protein that helps regulate the flow of positively charged ions in and out of cells in the brain. Mutations in this gene disrupt the normal function of the protein, leading to abnormal electrical activity in the brain and seizures.

Symptoms

The symptoms of EIEE type 7 usually appear within the first few weeks of life. Infants may experience frequent seizures that are difficult to control with medication. These seizures can take many forms, including focal seizures, tonic seizures, and myoclonic seizures. Other symptoms may include:

• Poor feeding
• Developmental delays
• Intellectual disability
• Abnormal muscle tone
• Abnormal eye movements
• Abnormal brain waves on an electroencephalogram (EEG)

Diagnosis

EIEE type 7 is diagnosed based on the presence of characteristic symptoms and genetic testing. A genetic test can identify mutations in the KCNQ2 gene that are associated with EIEE type 7. This test can be done using a technique called next-generation sequencing (NGS), which can analyze multiple genes at once.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for EIEE type 7 is approximately INR 20,000 in India. This cost may vary depending on the laboratory and location. It is important to check with the laboratory about the cost and insurance coverage before undergoing testing.

Conclusion

EIEE type 7 is a rare but severe neurological disorder that affects infants. It is caused by mutations in the KCNQ2 gene and is characterized by frequent seizures, developmental delays, and intellectual disability. Genetic testing using NGS can help diagnose EIEE type 7 and provide valuable information for treatment and management. The cost of this test may vary, so it is important to check with the laboratory about the cost and insurance coverage.

If you suspect that your child may have EIEE type 7 or any other genetic disorder, it is important to consult a genetic counselor or healthcare provider for guidance and support.

At DNA Labs India, we offer a wide range of genetic tests, including NGS, to help diagnose and manage genetic disorders. Our team of genetic counselors and healthcare professionals can provide support and guidance throughout the testing process. Contact us today to learn more.

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 KCNQ2 Gene Early infantile epileptic encephalopathy type 7 NGS Genetic DNA Test