Short Description

NGS genetic DNA test detecets for variant and mutation detection in SIK1 gene for Early infantile epileptic encephalopathy type 30

PreTest Information

Clinical History of Patient who is going for SIK1 Gene Early infantile epileptic encephalopathy type 30 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SIK1 Gene Early infantile epileptic encephalopathy type 30

Detail Description

Understanding SIK1 Gene and Early Infantile Epileptic Encephalopathy Type 30

Early Infantile Epileptic Encephalopathy (EIEE) is a group of rare genetic disorders that affect infants and young children. One of the known causes of EIEE is the mutation in the SIK1 gene. EIEE Type 30 is a specific form of EIEE caused by mutations in the SIK1 gene. Early diagnosis of this condition is crucial for managing symptoms and improving the quality of life of affected individuals.

What is the SIK1 Gene?

The SIK1 gene is responsible for producing a protein that plays a crucial role in brain development and function. Mutations in the SIK1 gene can disrupt normal brain activity and lead to seizures and other neurological symptoms.

What is Early Infantile Epileptic Encephalopathy Type 30?

Early Infantile Epileptic Encephalopathy Type 30 (EIEE30) is a rare form of EIEE caused by mutations in the SIK1 gene. This condition typically presents in the first few months of life with seizures, developmental delays, and other neurological symptoms.

What are the Symptoms of EIEE Type 30?

The symptoms of EIEE Type 30 can vary from person to person, but typically include:

• Seizures
• Developmental delays
• Intellectual disability
• Speech and language problems
• Muscle stiffness and weakness
• Abnormal movements

How is EIEE Type 30 Diagnosed?

EIEE Type 30 can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a powerful tool that can identify mutations in the SIK1 gene. This test can be performed on a blood or saliva sample.

What is the Cost of NGS Genetic DNA Test for EIEE Type 30 in India?

The cost of NGS Genetic DNA Test for EIEE Type 30 in India is typically around INR 20,000. However, the cost can vary depending on the testing laboratory and other factors.

Why is Early Diagnosis of EIEE Type 30 Important?

Early diagnosis of EIEE Type 30 is crucial for managing symptoms and improving the quality of life of affected individuals. Early intervention can also help to prevent or minimize the development of secondary complications.

Conclusion

EIEE Type 30 is a rare form of EIEE caused by mutations in the SIK1 gene. Genetic testing using NGS technology can identify these mutations and provide early diagnosis. Early diagnosis is important for managing symptoms and improving outcomes for affected individuals. The cost of NGS Genetic DNA Test for EIEE Type 30 in India is typically around INR 20,000.

If you suspect that your child may be affected by EIEE Type 30, it is important to speak with a genetic counselor or healthcare provider to discuss testing options and treatment options.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS Genetic DNA Test for EIEE Type 30. Contact us today to learn more about our services and how we can help you.

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 SIK1 Gene Early infantile epileptic encephalopathy type 30 NGS Genetic DNA Test