Short Description

NGS genetic DNA test detecets for variant and mutation detection in MAPK10 gene for Epileptic encephalopathy, Lennox-Gastaut type

PreTest Information

Clinical History of Patient who is going for MAPK10 Gene Epileptic encephalopathy, Lennox-Gastaut type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with MAPK10 Gene Epileptic encephalopathy, Lennox-Gastaut type

Detail Description

Understanding MAPK10 Gene Epileptic Encephalopathy, Lennox-Gastaut Type

Epileptic encephalopathy is a group of epilepsy disorders that cause frequent seizures, along with cognitive and behavioral disturbances. Lennox-Gastaut syndrome is one such type of epileptic encephalopathy. It is a rare and severe form of epilepsy that typically affects children between the ages of 3 and 5 years. Lennox-Gastaut syndrome is characterized by multiple seizure types, developmental delays, and intellectual disabilities.

Research has shown that Lennox-Gastaut syndrome can be caused by mutations in several genes, one of which is the MAPK10 gene. The MAPK10 gene provides instructions for making a protein called JNK3, which is involved in several cellular processes, including cell death, inflammation, and stress response.

Symptoms of Lennox-Gastaut Syndrome

The symptoms of Lennox-Gastaut syndrome can vary from person to person, but they typically include:

• Frequent seizures, including tonic seizures, atonic seizures, and atypical absence seizures
• Cognitive and behavioral problems, such as intellectual disability, developmental delays, and attention deficit hyperactivity disorder (ADHD)
• Motor problems, such as muscle weakness and coordination difficulties
• Abnormal EEG readings

Diagnosis of Lennox-Gastaut Syndrome

Diagnosing Lennox-Gastaut syndrome can be challenging because the symptoms can be similar to other types of epilepsy. However, a few key characteristics can help doctors differentiate Lennox-Gastaut syndrome from other types of epilepsy, including:

• A history of multiple seizure types
• Abnormal EEG readings
• Cognitive and behavioral problems, such as intellectual disability and developmental delays

In addition to a physical exam and medical history, doctors may also use imaging tests, such as magnetic resonance imaging (MRI), to rule out other causes of seizures.

NGS Genetic DNA Test for MAPK10 Gene Epileptic Encephalopathy, Lennox-Gastaut Type

NGS Genetic DNA testing is a type of genetic test that uses next-generation sequencing technology to analyze multiple genes at once. This technology allows doctors to identify mutations in the MAPK10 gene that may be causing Lennox-Gastaut syndrome.

The NGS Genetic DNA test for MAPK10 gene epileptic encephalopathy, Lennox-Gastaut type typically costs INR 20,000. The test is performed using a small blood sample or cheek swab, which is sent to a laboratory for analysis.

Conclusion

Lennox-Gastaut syndrome can be a challenging condition to diagnose and manage, but advances in genetic testing have made it possible for doctors to identify the underlying cause of the disorder in some cases. The NGS Genetic DNA test for MAPK10 gene epileptic encephalopathy, Lennox-Gastaut type is a valuable tool in the diagnosis and management of this condition, and it can provide important information for families affected by this disorder.

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 MAPK10 Gene Epileptic encephalopathy, Lennox-Gastaut type NGS Genetic DNA Test