Short Description

NGS genetic DNA test detecets for variant and mutation detection in KCTD7 gene for Progressive myoclonus epilepsy type 3

PreTest Information

Clinical History of Patient who is going for KCTD7 Gene Progressive myoclonus epilepsy type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with KCTD7 Gene Progressive myoclonus epilepsy type 3

Detail Description

Understanding KCTD7 Gene Progressive Myoclonus Epilepsy Type 3 and NGS Genetic DNA Test

Progressive myoclonus epilepsy (PME) is a rare disorder that affects the nervous system and causes muscle jerks or spasms. There are several types of PME, and one of them is caused by mutations in the KCTD7 gene. This type is known as Progressive Myoclonus Epilepsy Type 3 (EPM3).

NGS Genetic DNA Test is a diagnostic tool that can help identify mutations in the KCTD7 gene. In this blog post, we will discuss the symptoms, diagnosis, and cost of this test.

Symptoms of EPM3

The symptoms of EPM3 usually begin in childhood or adolescence and gradually worsen over time. Some of the common symptoms include:

• Myoclonus (muscle jerks or twitches)
• Seizures
• Ataxia (difficulty with coordination and balance)
• Dementia
• Visual impairment
• Sleep disturbances

These symptoms can vary in severity and may not all appear at the same time. The progression of the disease is typically slow, and patients may become severely disabled over time.

Diagnosis of EPM3

Diagnosing EPM3 can be challenging, as the symptoms can be similar to other neurological disorders. A complete medical history and physical examination are usually the first steps in the diagnostic process.

Genetic testing, such as NGS Genetic DNA Test, can help confirm a diagnosis of EPM3. This test looks for mutations in the KCTD7 gene and can identify the specific type of PME that a patient has.

NGS Genetic DNA Test Cost

The cost of NGS Genetic DNA Test for EPM3 in India is around INR 20,000. This cost may vary depending on the testing facility and location.

Conclusion

EPM3 is a rare form of progressive myoclonus epilepsy that is caused by mutations in the KCTD7 gene. NGS Genetic DNA Test can help diagnose this condition and identify the specific type of PME that a patient has. If you or someone you know is experiencing symptoms of PME, it is important to seek medical attention and consider genetic testing for an accurate diagnosis.

For more information about NGS Genetic DNA Test and other genetic testing options, contact DNA Labs India.

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 KCTD7 Gene Progressive myoclonus epilepsy type 3 NGS Genetic DNA Test