Short Description

NGS genetic DNA test detecets for variant and mutation detection in GOSR2 gene for Progressive myoclonus epilepsy type 6

PreTest Information

Clinical History of Patient who is going for GOSR2 Gene Progressive myoclonus epilepsy type 6 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GOSR2 Gene Progressive myoclonus epilepsy type 6

Detail Description

Progressive Myoclonus Epilepsy Type 6: Understanding the GOSR2 Gene and NGS Genetic DNA Testing

Progressive myoclonus epilepsy (PME) is a rare type of epilepsy that is characterized by sudden, involuntary muscle jerks or twitches (myoclonus) that become more frequent and severe over time. PME can also lead to seizures, cognitive decline, and other neurological symptoms. There are several different types of PME, each caused by a different genetic mutation.

One of the genes that has been implicated in PME is the GOSR2 gene. Mutations in this gene can cause PME type 6, a rare form of the condition. Genetic testing can help diagnose PME type 6 and other types of PME, and can also provide valuable information for treatment and management.

Understanding the GOSR2 Gene

The GOSR2 gene provides instructions for making a protein called GOSR2, which plays a role in the transport of proteins and other molecules within cells. Specifically, GOSR2 is involved in the movement of proteins from the endoplasmic reticulum (ER) to the Golgi apparatus, which is a cellular structure that processes and sorts proteins before they are sent to their final destination.

Mutations in the GOSR2 gene can disrupt the normal function of the protein, leading to problems with protein transport and other cellular processes. This can ultimately result in the neurological symptoms associated with PME type 6.

Symptoms of PME Type 6

PME type 6 typically begins in childhood or adolescence, and is characterized by progressive myoclonus (muscle jerks) and seizures. Other symptoms may include:

• Ataxia (uncoordinated movements)
• Dysarthria (difficulty speaking)
• Cognitive impairment
• Behavioral problems
• Vision problems
• Sleep disturbances

Diagnosing PME Type 6

Diagnosing PME type 6 involves a combination of clinical evaluation, genetic testing, and other diagnostic tests. A neurologist or other healthcare provider will typically perform a physical exam, take a medical history, and assess symptoms to determine if PME is a likely diagnosis.

Genetic testing is an important tool for diagnosing PME type 6 and other types of PME. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once, making it a more efficient and comprehensive option for diagnosing PME.

NGS Genetic DNA Testing for PME Type 6

NGS genetic DNA testing for PME type 6 typically involves analyzing the GOSR2 gene and other genes that have been associated with PME. This type of testing can help confirm a diagnosis of PME type 6, as well as provide information about the specific genetic mutation and the inheritance pattern of the condition.

The cost of NGS genetic DNA testing for PME type 6 in India can vary depending on the specific test and the laboratory performing the test. However, the cost is typically in the range of INR 20,000 or higher.

Conclusion

Progressive myoclonus epilepsy type 6 is a rare and complex condition that can be difficult to diagnose. However, genetic testing, including NGS genetic DNA testing, can provide valuable information for diagnosis, treatment, and management. If you or a loved one are experiencing symptoms of PME type 6, it is important to seek medical evaluation and consider genetic testing to help determine the cause of the symptoms.

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 GOSR2 Gene Progressive myoclonus epilepsy type 6 NGS Genetic DNA Test