Short Description

NGS genetic DNA test detecets for variant and mutation detection in EPM2A gene for Myoclonic epilepsy of Lafora

PreTest Information

Clinical History of Patient who is going for EPM2A Gene Myoclonic epilepsy of Lafora NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with EPM2A Gene Myoclonic epilepsy of Lafora

Detail Description

Understanding EPM2A Gene Myoclonic Epilepsy of Lafora and NGS Genetic DNA Test Cost in India

Myoclonic epilepsy of Lafora is a rare genetic disorder that affects the nervous system. This disorder typically begins in adolescence and is characterized by seizures, progressive cognitive decline, and muscle stiffness. It is caused by mutations in the EPM2A gene, which provides instructions for making an enzyme called laforin. Laforin plays a critical role in glycogen metabolism, and mutations in the EPM2A gene can disrupt this process, leading to the buildup of abnormal glycogen structures in the brain and other tissues.

Symptoms of Myoclonic Epilepsy of Lafora

The symptoms of myoclonic epilepsy of Lafora usually begin in adolescence, typically between the ages of 10 and 18. The most common symptom is myoclonus, which is a sudden, involuntary muscle twitch or jerk. These movements can affect the arms, legs, and face, and can be mild or severe. Other symptoms may include:

• Seizures
• Cognitive decline
• Difficulty speaking or writing
• Loss of coordination
• Difficulty walking
• Muscle stiffness or rigidity

Diagnosis of Myoclonic Epilepsy of Lafora

Diagnosing myoclonic epilepsy of Lafora can be challenging because the symptoms can be similar to those of other neurological disorders. However, a genetic test can confirm the diagnosis. The most common test is a Next-Generation Sequencing (NGS) genetic test, which can detect mutations in the EPM2A gene. This test involves sequencing the entire DNA molecule, which can detect even rare mutations that may be missed by other tests.

NGS Genetic DNA Test Cost in India

The cost of an NGS genetic DNA test in India can vary depending on the laboratory and the specific test being performed. However, the average cost of an NGS genetic DNA test for myoclonic epilepsy of Lafora is around INR 20,000. It is important to note that this is just an average and that the actual cost may be higher or lower depending on the laboratory and the specific test being performed.

Conclusion

Myoclonic epilepsy of Lafora is a rare genetic disorder that can be challenging to diagnose. However, a genetic test can confirm the diagnosis and help guide treatment. The NGS genetic DNA test is the most common test for this disorder and has an average cost of around INR 20,000 in India. If you or someone you know is experiencing symptoms of myoclonic epilepsy of Lafora, it is important to speak with a healthcare professional to get a proper diagnosis and treatment plan.

At DNA Labs India, we offer reliable and affordable genetic testing services, including NGS genetic DNA testing for myoclonic epilepsy of Lafora. Contact us today to learn more about our services and how we can help you.

Myoclonic Epilepsy of Lafora (Lafora disease) is a rare and severe form of progressive myoclonic epilepsy that typically starts during adolescence. It is characterized by recurrent seizures, myoclonus (involuntary muscle jerks), and the accumulation of abnormal glycogen-like structures called Lafora bodies in various tissues, including the brain. Mutations in the EPM2A gene are the primary cause of this condition.