Short Description

NGS genetic DNA test detecets for variant and mutation detection in GABRB1 gene for Early infantile epileptic encephalopathy type 45

PreTest Information

Clinical History of Patient who is going for GABRB1 Gene Early infantile epileptic encephalopathy type 45 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GABRB1 Gene Early infantile epileptic encephalopathy type 45

Detail Description

GABRB1 Gene: Early Infantile Epileptic Encephalopathy Type 45 NGS Genetic DNA Test

Early Infantile Epileptic Encephalopathy (EIEE) is a rare genetic disorder that affects the brain, causing seizures and developmental delays. EIEE Type 45 is caused by mutations in the GABRB1 gene. DNA Labs India offers a NGS Genetic DNA Test to diagnose this condition. This blog will explore the symptoms, diagnosis, and cost of this test.

Symptoms of Early Infantile Epileptic Encephalopathy Type 45

The symptoms of EIEE Type 45 usually begin in the first few months of life and include:

• Frequent seizures that are difficult to control with medication
• Developmental delays
• Intellectual disability
• Muscle weakness or rigidity
• Difficulty with movement and coordination
• Unusual eye movements

These symptoms can vary in severity, and not all individuals with EIEE Type 45 will experience all of them.

Diagnosis of Early Infantile Epileptic Encephalopathy Type 45

Diagnosing EIEE Type 45 requires genetic testing to identify mutations in the GABRB1 gene. DNA Labs India offers a NGS Genetic DNA Test that can detect mutations in this gene. This test uses next-generation sequencing technology to analyze the DNA sequence of the GABRB1 gene and identify any mutations that may be causing EIEE Type 45.

In addition to genetic testing, a diagnosis of EIEE Type 45 may also involve a physical exam, neurological evaluation, and other diagnostic tests such as an electroencephalogram (EEG) or magnetic resonance imaging (MRI).

Cost of NGS Genetic DNA Test for Early Infantile Epileptic Encephalopathy Type 45

The cost of DNA Labs India's NGS Genetic DNA Test for EIEE Type 45 is INR 20,000. This test is not covered by insurance, and payment is required at the time of service.

It is important to note that the cost of genetic testing may vary depending on the specific test ordered and the laboratory performing the test. It is recommended that individuals contact their insurance provider and the laboratory performing the test to determine the exact cost and any potential insurance coverage.

Conclusion

Early Infantile Epileptic Encephalopathy Type 45 is a rare genetic disorder that causes seizures and developmental delays. DNA Labs India offers a NGS Genetic DNA Test to diagnose this condition by identifying mutations in the GABRB1 gene. The cost of this test is INR 20,000. If you suspect that you or a loved one may have EIEE Type 45, it is important to speak with a healthcare professional and consider genetic testing to confirm a diagnosis.

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 GABRB1 Gene Early infantile epileptic encephalopathy type 45 NGS Genetic DNA Test