Short Description

NGS genetic DNA test detecets for variant and mutation detection in CERS1 gene for Progressive myoclonus epilepsy type 8

PreTest Information

Clinical History of Patient who is going for CERS1 Gene Progressive myoclonus epilepsy type 8 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CERS1 Gene Progressive myoclonus epilepsy type 8

Detail Description

CERS1 Gene Progressive Myoclonus Epilepsy Type 8 NGS Genetic DNA Test: Symptoms, Diagnosis and Cost

Progressive myoclonus epilepsy (PME) is a rare type of epilepsy that is characterized by progressive muscle jerks and seizures. PME type 8 is caused by mutations in the CERS1 gene, which is responsible for the production of ceramide synthase. Ceramide synthase is an enzyme that plays an important role in the production of ceramide, which is a type of lipid that is essential for the normal functioning of cells.

Symptoms of PME Type 8

The symptoms of PME type 8 typically appear in childhood or adolescence. The most common symptoms include:

• Myoclonus – sudden, involuntary muscle jerks
• Seizures – which may be generalized or focal
• Ataxia – a lack of muscle coordination that can affect movements such as walking, speech, and eye movements
• Cognitive impairment – including problems with memory, attention, and problem-solving

Diagnosis of PME Type 8

The diagnosis of PME type 8 is typically based on a combination of clinical symptoms, family history, and genetic testing. A genetic test can identify mutations in the CERS1 gene that are associated with PME type 8.

NGS (Next-Generation Sequencing) genetic testing is a powerful tool for identifying mutations in genes associated with a variety of genetic disorders. NGS can detect mutations in multiple genes simultaneously, which can be particularly useful for diagnosing rare genetic disorders such as PME type 8.

CERS1 Gene Progressive Myoclonus Epilepsy Type 8 NGS Genetic DNA Test Cost

The cost of a CERS1 gene PME type 8 NGS genetic DNA test in India is typically around INR 20,000. This may vary depending on the specific testing facility and any additional tests or services that are included in the testing package.

It is important to note that genetic testing may not be covered by insurance, and patients may need to pay for the test out of pocket. However, the cost of genetic testing is often significantly lower than the cost of ongoing medical care and treatment for a genetic disorder.

Conclusion

CERS1 gene PME type 8 NGS genetic DNA testing can be a valuable tool for diagnosing this rare form of epilepsy. Early diagnosis can help patients and their families to better understand the condition and make informed decisions about treatment and care. The cost of genetic testing may be a concern for some patients, but it is important to remember that the cost of ongoing medical care and treatment for a genetic disorder can be much higher.

If you suspect that you or a loved one may have PME type 8, talk to your doctor about genetic testing options and costs.

CERS1 (Ceramide Synthase 1) is a gene that encodes an enzyme involved in the synthesis of ceramides, which are lipid molecules with various cellular functions, including in cell membrane structure and signaling.

Mutations in the CERS1 gene can lead to disruptions in ceramide metabolism, potentially contributing to the development of Progressive Myoclonus Epilepsy Type 8.

NGS (Next-Generation Sequencing) genetic DNA tests can be used to analyze the DNA sequence of genes like CERS1 to identify any mutations or variants that may be associated with Progressive Myoclonus Epilepsy Type 8.

If you or someone you know is considering genetic testing for Progressive Myoclonus Epilepsy Type 8 related to the CERS1 gene, I recommend consulting with a neurologist, a medical geneticist, or a genetic counselor. They can provide accurate and current information about the condition, the implications of genetic testing, and any available treatment or management options. Medical knowledge can evolve, so it's important to rely on expert guidance for the latest information.