Short Description

NGS genetic DNA test detecets for variant and mutation detection in EFHC1 gene for Epilepsy, juvenile absence type 1

PreTest Information

Clinical History of Patient who is going for EFHC1 Gene Epilepsy, juvenile absence type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with EFHC1 Gene Epilepsy, juvenile absence type 1

Detail Description

EFHC1 Gene Epilepsy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Epilepsy is a neurological disorder that affects millions of people worldwide. It is characterized by recurrent seizures that can range from mild to severe. There are many different types of epilepsy, and each has its own set of symptoms and causes. One type of epilepsy is juvenile absence epilepsy, which is caused by mutations in the EFHC1 gene. In this blog, we will discuss the symptoms of EFHC1 gene epilepsy, how it is diagnosed, and the cost of the NGS genetic DNA test in India.

Symptoms of EFHC1 Gene Epilepsy

Juvenile absence epilepsy is characterized by sudden, brief lapses of consciousness that can last for a few seconds. During these episodes, the person may stare blankly, have rapid eye blinking, or make small movements like lip smacking or finger tapping. These episodes can occur multiple times a day and can be mistaken for daydreaming or inattention. Other symptoms of EFHC1 gene epilepsy can include:

• Generalized tonic-clonic seizures
• Myoclonic seizures
• Absence seizures
• Febrile seizures
• Atypical absence seizures

Diagnosis of EFHC1 Gene Epilepsy

Diagnosis of EFHC1 gene epilepsy typically begins with a physical exam and medical history review. The doctor may also order an electroencephalogram (EEG) to measure the electrical activity in the brain. This test can help identify abnormal brain activity that is consistent with epilepsy. If the doctor suspects that the patient has EFHC1 gene epilepsy, they may recommend genetic testing. This involves analyzing a blood sample to look for mutations in the EFHC1 gene. Genetic testing can confirm a diagnosis of EFHC1 gene epilepsy and help guide treatment decisions.

NGS Genetic DNA Test Cost in India

Next-generation sequencing (NGS) is a powerful tool for genetic testing that allows for the simultaneous analysis of multiple genes. The cost of NGS genetic DNA testing for EFHC1 gene epilepsy in India is typically around INR 20,000. This cost may vary depending on the specific testing facility and any additional tests that may be required. It is important to note that genetic testing for EFHC1 gene epilepsy is not always covered by insurance. Patients should consult with their insurance provider to determine if genetic testing is covered under their plan.

Conclusion

EFHC1 gene epilepsy is a type of epilepsy that is caused by mutations in the EFHC1 gene. It is characterized by recurrent seizures, including absence seizures, myoclonic seizures, and generalized tonic-clonic seizures. Diagnosis typically involves a physical exam, medical history review, EEG, and genetic testing. The cost of NGS genetic DNA testing for EFHC1 gene epilepsy in India is around INR 20,000. If you or a loved one is experiencing symptoms of epilepsy, it is important to seek medical attention and discuss the possibility of genetic testing with your healthcare provider.