Short Description

NGS genetic DNA test detecets for variant and mutation detection in GABRA1 gene for Early infantile epileptic encephalopathy type 19

PreTest Information

Clinical History of Patient who is going for GABRA1 Gene Early infantile epileptic encephalopathy type 19 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GABRA1 Gene Early infantile epileptic encephalopathy type 19

Detail Description

GABRA1 Gene Early Infantile Epileptic Encephalopathy Type 19 NGS Genetic DNA Test Cost INR 20000 Symptoms Diagnosis

Early infantile epileptic encephalopathy (EIEE) is a group of rare genetic disorders that cause seizures and developmental delays in infants. EIEE type 19 is caused by mutations in the GABRA1 gene, which provides instructions for making a protein that helps regulate the activity of neurotransmitters in the brain.

NGS Genetic DNA testing is a diagnostic tool that uses next-generation sequencing technology to analyze a patient's DNA and identify genetic mutations that may be causing their symptoms. This test can be used to diagnose EIEE type 19 and other genetic disorders.

Symptoms of EIEE Type 19

The symptoms of EIEE type 19 typically begin in the first few months of life and may include:

• Seizures
• Developmental delays
• Intellectual disability
• Abnormal muscle tone
• Difficulty feeding
• Difficulty sleeping

These symptoms can vary in severity and may worsen over time.

Diagnosis of EIEE Type 19

Diagnosis of EIEE type 19 typically involves a combination of clinical evaluation, medical history, and genetic testing. NGS Genetic DNA testing is the most reliable way to diagnose EIEE type 19. This test can identify mutations in the GABRA1 gene that are responsible for the disorder.

NGS Genetic DNA Test Cost

The cost of NGS Genetic DNA testing for EIEE type 19 in India is approximately INR 20000. This cost may vary depending on the specific testing laboratory and the complexity of the test.

Conclusion

EIEE type 19 is a rare genetic disorder that can cause seizures and developmental delays in infants. NGS Genetic DNA testing is a reliable diagnostic tool that can identify mutations in the GABRA1 gene that cause EIEE type 19. The cost of this test in India is approximately INR 20000. If you suspect that your child may have EIEE type 19, it is important to speak with a genetic counselor or healthcare provider to discuss testing options and treatment options.

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 GABRA1 Gene Early infantile epileptic encephalopathy type 19 NGS Genetic DNA Test