Short Description

NGS genetic DNA test detecets for variant and mutation detection in PLCB1 gene for Early infantile epileptic encephalopathy type 12

PreTest Information

Clinical History of Patient who is going for PLCB1 Gene Early infantile epileptic encephalopathy type 12 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PLCB1 Gene Early infantile epileptic encephalopathy type 12

Detail Description

PLCB1 Gene Early Infantile Epileptic Encephalopathy Type 12 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Early infantile epileptic encephalopathy type 12 (EIEE12) is a rare genetic disorder that affects the brain and nervous system of infants. It is caused by mutations in the PLCB1 gene, which provides instructions for making a protein that is important for communication between nerve cells.

Symptoms of EIEE12 usually begin in the first few months of life and can include:

• Seizures
• Developmental delay
• Intellectual disability
• Muscle spasms
• Abnormal eye movements

Diagnosis of EIEE12 can be confirmed through genetic testing, specifically next-generation sequencing (NGS) of the PLCB1 gene. This test analyzes the DNA sequence of the gene to identify any mutations that may be causing the disorder.

DNA Labs India offers NGS genetic DNA testing for EIEE12 at a cost of INR 20,000. This test is performed using state-of-the-art technology and is highly accurate in detecting mutations in the PLCB1 gene.

If you suspect that your child may have EIEE12 or if they are experiencing any of the symptoms listed above, it is important to speak with a healthcare professional. Early diagnosis and treatment can help improve outcomes for children with this disorder.

In addition to genetic testing, treatment for EIEE12 may include medications to control seizures and other symptoms, as well as therapies to support developmental and cognitive growth.

At DNA Labs India, we are committed to providing high-quality genetic testing services to help individuals and families better understand their health. Contact us today to learn more about our NGS genetic DNA testing for EIEE12 and other genetic disorders.

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 PLCB1 Gene Early infantile epileptic encephalopathy type 12 NGS Genetic DNA Test