Short Description

NGS genetic DNA test detecets for variant and mutation detection in ARHGEF9 gene for Hyperekplexia, EIEE8 related

PreTest Information

Clinical History of Patient who is going for ARHGEF9 Gene Hyperekplexia, EIEE8 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ARHGEF9 Gene Hyperekplexia, EIEE8 related

Detail Description

ARHGEF9 Gene Hyperekplexia, EIEE8 related NGS Genetic DNA Test

Hyperekplexia is a rare genetic disorder characterized by exaggerated startle reflexes, stiffness, and sometimes, seizures. This condition is caused by a mutation in the ARHGEF9 gene, which is responsible for producing a protein that helps regulate the activity of nerve cells in the brain and spinal cord. ARHGEF9 gene mutations can also lead to early infantile epileptic encephalopathy type 8 (EIEE8), a severe form of epilepsy that begins in the first months of life.

Symptoms of ARHGEF9 Gene Hyperekplexia, EIEE8

The symptoms of ARHGEF9 Gene Hyperekplexia, EIEE8 vary depending on the severity of the condition. The most common symptoms include:

• Exaggerated startle reflexes
• Muscle stiffness or rigidity
• Tremors
• Seizures
• Developmental delays
• Intellectual disability

Diagnosis of ARHGEF9 Gene Hyperekplexia, EIEE8

Diagnosing ARHGEF9 Gene Hyperekplexia, EIEE8 involves a combination of physical exams, medical history reviews, and genetic testing. Doctors may perform a neurological exam to check for muscle stiffness and exaggerated startle reflexes. They may also perform an electroencephalogram (EEG) to detect abnormal brain activity that could indicate seizures.

Genetic testing is the most accurate way to diagnose ARHGEF9 Gene Hyperekplexia, EIEE8. Next-generation sequencing (NGS) DNA testing is a type of genetic testing that can identify mutations in the ARHGEF9 gene. This test is highly accurate and can provide a definitive diagnosis for the condition.

NGS Genetic DNA Test Cost

The cost of NGS Genetic DNA testing for ARHGEF9 Gene Hyperekplexia, EIEE8 in India is typically around INR 20,000. However, the cost may vary depending on the specific testing facility and any additional fees that may be required.

Conclusion

ARHGEF9 Gene Hyperekplexia, EIEE8 is a rare genetic disorder that can cause significant developmental delays and intellectual disability. Early diagnosis and treatment are crucial for managing the symptoms of this condition and improving quality of life. If you or a loved one are experiencing symptoms of ARHGEF9 Gene Hyperekplexia, EIEE8, speak with a healthcare provider about genetic testing options.

It is important to get the test done from a reputable and reliable DNA testing facility like DNA Labs India to ensure accurate and reliable results. The cost of NGS Genetic DNA testing for ARHGEF9 Gene Hyperekplexia, EIEE8 is affordable, and the benefits of early diagnosis and treatment are immeasurable.

Overall, by understanding the symptoms, diagnosis, and cost of NGS Genetic DNA testing for ARHGEF9 Gene Hyperekplexia, EIEE8, individuals can take proactive measures to manage the condition and improve their quality of life.

For more information about genetic testing for ARHGEF9 Gene Hyperekplexia, EIEE8, contact DNA Labs India today.