Test Name	GUF1 Gene Early infantile epileptic encephalopathy type 40 NGS Genetic DNA Test
Test type	Neurologist
Pre-test Information	Clinical History of Patient who is going for GUF1 Gene Early infantile epileptic encephalopathy type 40 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GUF1 Gene Early infantile epileptic encephalopathy type 40
Report Delivery	3 to 4 Weeks
Components
Price	₹ 20000
Method	NGS Technology

Short Description

NGS genetic DNA test detecets for variant and mutation detection in GUF1 gene for Early infantile epileptic encephalopathy type 40

PreTest Information

Clinical History of Patient who is going for GUF1 Gene Early infantile epileptic encephalopathy type 40 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GUF1 Gene Early infantile epileptic encephalopathy type 40

Detail Description

GUF1 Gene Early Infantile Epileptic Encephalopathy Type 40 NGS Genetic DNA Test

Introduction:

Early Infantile Epileptic Encephalopathy (EIEE) is a severe neurological disorder that affects children in their first year of life. It is characterized by recurrent seizures and developmental delay. EIEE Type 40 is caused by mutations in the GUF1 gene. The GUF1 gene provides instructions for making a protein that is involved in the production of energy in the cells of the body. Mutations in the GUF1 gene can disrupt the production of energy in the brain, leading to seizures and developmental delay.

Symptoms:

The symptoms of EIEE Type 40 can vary from person to person. However, the most common symptoms include:

• Recurrent seizures that start in the first year of life
• Developmental delay
• Intellectual disability
• Microcephaly (small head size)
• Abnormal muscle tone

Diagnosis:

EIEE Type 40 is diagnosed using genetic testing. The most common genetic test used to diagnose EIEE Type 40 is Next-Generation Sequencing (NGS). NGS is a high-throughput sequencing technology that can analyze multiple genes at the same time. This makes it a fast and efficient way to identify mutations in the GUF1 gene.

NGS Genetic DNA Test Cost:

The cost of the NGS genetic DNA test for EIEE Type 40 is INR 20,000.

Conclusion:

Early Infantile Epileptic Encephalopathy Type 40 is a severe neurological disorder that affects children in their first year of life. It is caused by mutations in the GUF1 gene. The most common symptoms include recurrent seizures, developmental delay, intellectual disability, microcephaly, and abnormal muscle tone. NGS is the most common genetic test used to diagnose EIEE Type 40, and the cost of the test is INR 20,000. If your child is showing symptoms of EIEE Type 40, it is important to consult with a genetic counselor or a healthcare professional who specializes in genetic testing. Early diagnosis and treatment can help improve the outcome for children with EIEE Type 40.

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 GUF1 Gene Early infantile epileptic encephalopathy type 40 NGS Genetic DNA Test