Short Description

NGS genetic DNA test detecets for variant and mutation detection in SCN2A gene for Convulsions, benign familial infantile, 3

PreTest Information

Clinical History of Patient who is going for SCN2A Gene Convulsions, benign familial infantile, 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SCN2A Gene Convulsions, benign familial infantile, 3

Detail Description

Understanding SCN2A Gene Convulsions

SCN2A gene convulsions, also known as benign familial infantile, are a rare form of epilepsy that affects infants and young children. This genetic disorder is caused by a mutation in the SCN2A gene, which is responsible for encoding a protein called sodium channel Nav1.2. This protein is crucial for the proper functioning of nerve cells in the brain, and any mutations in the SCN2A gene can disrupt this function, leading to seizures and other neurological symptoms.

Symptoms of SCN2A Gene Convulsions

The symptoms of SCN2A gene convulsions can vary widely, but they typically involve recurrent seizures that start in the first few months of life. These seizures can take many forms, including:

• Tonic-clonic seizures
• Myoclonic seizures
• Atonic seizures
• Focal seizures

In addition to seizures, children with SCN2A gene convulsions may also experience other neurological symptoms, such as:

• Developmental delays
• Intellectual disability
• Speech and language problems
• Muscle weakness
• Abnormal movements

Diagnosis of SCN2A Gene Convulsions

Diagnosing SCN2A gene convulsions can be challenging, as the symptoms can be similar to other forms of epilepsy. However, genetic testing can help identify the specific mutation in the SCN2A gene that is causing the seizures. The most effective test for diagnosing SCN2A gene convulsions is Next-Generation Sequencing (NGS), a high-throughput DNA sequencing technology that can quickly and accurately identify genetic mutations. NGS testing for SCN2A gene convulsions typically costs around INR 20,000.

Treatment and Management of SCN2A Gene Convulsions

There is currently no cure for SCN2A gene convulsions, but there are several treatment options that can help manage the symptoms. Anti-epileptic drugs (AEDs) are often used to control seizures, but they may not be effective for all patients. Other treatments may include physical therapy, speech therapy, and occupational therapy to address developmental delays and other neurological symptoms.

Conclusion

SCN2A gene convulsions are a rare form of epilepsy that can cause seizures and other neurological symptoms in infants and young children. Genetic testing, specifically NGS, can help identify the specific mutation in the SCN2A gene that is causing the seizures and aid in diagnosis. While there is no cure for SCN2A gene convulsions, there are several treatment options that can help manage the symptoms and improve the quality of life for patients and their families.

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 SCN2A Gene Convulsions, benign familial infantile, 3 NGS Genetic DNA Test