Short Description

NGS genetic DNA test detecets for variant and mutation detection in STXBP1 gene for Early infantile epileptic encephalopathy type 4

PreTest Information

Clinical History of Patient who is going for STXBP1 Gene Early infantile epileptic encephalopathy type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with STXBP1 Gene Early infantile epileptic encephalopathy type 4

Detail Description

STXBP1 Gene Early Infantile Epileptic Encephalopathy Type 4 NGS Genetic DNA Test Cost INR 20000 Symptoms Diagnosis

Early infantile epileptic encephalopathy (EIEE) is a rare genetic disorder characterized by seizures and neurological impairment. STXBP1 gene mutation is one of the most common causes of EIEE type 4. The STXBP1 gene provides instructions for making a protein that is essential for the release of neurotransmitters, which are chemicals that transmit signals between nerve cells in the brain.

Symptoms of STXBP1 Gene Mutation

The symptoms of STXBP1 gene mutation may vary from person to person. However, some common symptoms include:

• Seizures that begin in the first few months of life
• Developmental delay or regression
• Cognitive impairment
• Speech impairment
• Movement disorders
• Behavioral problems
• Feeding difficulties

Diagnosis of STXBP1 Gene Mutation

The diagnosis of STXBP1 gene mutation can be confirmed through genetic testing. Next-generation sequencing (NGS) is a powerful tool used to sequence the entire STXBP1 gene and identify any mutations. The test requires a blood or saliva sample from the patient, which is then sent to a laboratory for analysis.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for STXBP1 gene mutation in India is around INR 20000. The test may or may not be covered by insurance, so it is important to check with your insurance provider before getting the test done.

Conclusion

STXBP1 gene mutation is a rare genetic disorder that can cause early infantile epileptic encephalopathy type 4. The symptoms of the disorder can vary from person to person, and genetic testing is necessary to confirm the diagnosis. NGS genetic DNA testing is a powerful tool that can sequence the entire STXBP1 gene and identify any mutations. The cost of the test is around INR 20000 in India. If you suspect that you or your child may have STXBP1 gene mutation, it is important to consult a genetic counselor or a healthcare provider for further evaluation and management.

For more information on genetic testing and DNA labs in India, please visit 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 STXBP1 Gene Early infantile epileptic encephalopathy type 4 NGS Genetic DNA Test