Short Description

Dravet's Syndrome is caused by mutation in SCN1A gene. It is an autosomal dominant inheritance presenting with febrile seizures at median 1 year of age which may persist >6 years after which the seizures become variable and are not associated with fever. Early infantile epileptic encephalopathy (EIEE) is a severe form of early onset epilepsy characterized by severe EEG abnormalities and resistance to standard anti-epileptic treatment. It leads to developmental delay & intellectual disability.

PreTest Information

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Detail Description

Nx GEN SEQUENCING: DRAVET'S SYNDROME & EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY Test

DNA Labs India offers Nx GEN SEQUENCING testing for Dravet's Syndrome and Early Infantile Epileptic Encephalopathy. These tests help in the diagnosis and management of these conditions. The cost of the test is INR 23400.

Symptoms of Dravet's Syndrome and Early Infantile Epileptic Encephalopathy

Dravet's Syndrome is a rare genetic condition that affects infants and young children. The symptoms of Dravet's Syndrome include:

• Frequent seizures
• Delayed development
• Behavioral and cognitive problems
• Hyperactivity
• Difficulty with movement and balance

Early Infantile Epileptic Encephalopathy is another rare genetic condition that affects infants. The symptoms of this condition include:

• Frequent seizures
• Delayed development
• Behavioral and cognitive problems
• Weakness or loss of muscle tone
• Difficulty with movement and balance

Diagnosis of Dravet's Syndrome and Early Infantile Epileptic Encephalopathy

The diagnosis of Dravet's Syndrome and Early Infantile Epileptic Encephalopathy can be challenging as the symptoms can be similar to other conditions. The Nx GEN SEQUENCING test offered by DNA Labs India can help in the diagnosis of these conditions.

The test analyzes the patient's DNA to identify any genetic mutations that may be causing the condition. This information can help doctors make an accurate diagnosis and develop a treatment plan.

Cost of the Test

The cost of the Nx GEN SEQUENCING test for Dravet's Syndrome and Early Infantile Epileptic Encephalopathy is INR 23400. This cost includes the analysis of the patient's DNA and a report of the findings.

Conclusion

Dravet's Syndrome and Early Infantile Epileptic Encephalopathy are rare genetic conditions that can be challenging to diagnose. The Nx GEN SEQUENCING test offered by DNA Labs India can help in the diagnosis of these conditions, allowing doctors to develop an accurate treatment plan. The cost of the test is INR 23400, which includes the analysis of the patient's DNA and a report of the findings.

If you suspect that you or your child may have Dravet's Syndrome or Early Infantile Epileptic Encephalopathy, it is important to seek medical attention. Contact DNA Labs India to learn more about the Nx GEN SEQUENCING test and how it can help in the diagnosis and management of these conditions.

Dravet's Syndrome is caused by mutation in SCN1A gene. It is an autosomal dominant inheritance presenting with febrile seizures at median 1 year of age which may persist >6 years after which the seizures become variable and are not associated with fever. Early infantile epileptic encephalopathy (EIEE) is a severe form of early onset epilepsy characterized by severe EEG abnormalities and resistance to standard anti-epileptic treatment. It leads to developmental delay & intellectual disability.