Short Description

NGS genetic DNA test detecets for variant and mutation detection in SCARB2 gene for Epilepsy, progressive myoclonic type 4, with or without renal failure

PreTest Information

Clinical History of Patient who is going for SCARB2 Gene Epilepsy, progressive myoclonic type 4, with or without renal failure NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SCARB2 Gene Epilepsy, progressive myoclonic type 4, with or without renal failure

Detail Description

SCARB2 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 seizures and other symptoms that can have a significant impact on a person's quality of life. One type of epilepsy that has recently gained attention is progressive myoclonic epilepsy (PME). This rare type of epilepsy is characterized by myoclonus (muscle twitching) and seizures that progressively worsen over time.

One of the genes that have been linked to PME is the SCARB2 gene. Mutations in this gene have been associated with PME, with or without renal failure. In this blog post, we will discuss the symptoms, diagnosis, and NGS genetic DNA test cost in India for SCARB2 gene epilepsy.

Symptoms of SCARB2 Gene Epilepsy

The symptoms of SCARB2 gene epilepsy can vary depending on the individual. However, some of the most common symptoms include:

• Myoclonus (muscle twitching)
• Seizures
• Ataxia (lack of muscle coordination)
• Dementia
• Renal failure (in some cases)

It's important to note that these symptoms can also be seen in other types of epilepsy, so a proper diagnosis is crucial.

Diagnosis of SCARB2 Gene Epilepsy

Diagnosing SCARB2 gene epilepsy can be challenging, as the symptoms can be similar to other types of epilepsy. However, a genetic test can help confirm a diagnosis. The test looks for mutations in the SCARB2 gene, which can indicate a predisposition to PME.

If you or a loved one is experiencing symptoms of epilepsy, it's important to see a neurologist. They can perform a thorough evaluation and recommend any necessary tests, including a genetic test if necessary.

NGS Genetic DNA Test Cost in India

The cost of a genetic test for SCARB2 gene epilepsy can vary depending on the provider and location. However, in India, the cost is typically around INR 20,000. It's important to note that this cost may not include any additional fees, such as consultation fees or follow-up testing.

While the cost of a genetic test may seem high, it's important to consider the potential benefits. A genetic test can provide valuable information about an individual's health and help guide treatment decisions. It can also provide important information for family members who may be at risk of developing epilepsy.

Conclusion

SCARB2 gene epilepsy is a rare type of epilepsy that can have a significant impact on an individual's quality of life. If you or a loved one is experiencing symptoms of epilepsy, it's important to seek medical attention. A genetic test can help confirm a diagnosis and provide valuable information about an individual's health. While the cost of a genetic test may be high, the potential benefits are significant.

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 SCARB2 Gene Epilepsy, progressive myoclonic type 4, with or without renal failure NGS Genetic DNA Test