Short Description

NGS genetic DNA test detecets for variant and mutation detection in PCDH19 gene for Early infantile epileptic encephalopathy type 9

PreTest Information

Clinical History of Patient who is going for PCDH19 Gene Early infantile epileptic encephalopathy type 9 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PCDH19 Gene Early infantile epileptic encephalopathy type 9

Detail Description

PCDH19 Gene Early Infantile Epileptic Encephalopathy Type 9 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Early infantile epileptic encephalopathy type 9 (EIEE9) is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the PCDH19 gene, which is located on the X chromosome. EIEE9 is characterized by seizures that begin in the first year of life, often triggered by fever or illness.

NGS (next-generation sequencing) genetic testing is a powerful tool for diagnosing genetic disorders, including EIEE9. It uses advanced technology to analyze a patient's DNA and identify mutations in the PCDH19 gene.

Symptoms of EIEE9

The symptoms of EIEE9 can vary from person to person, but typically include:

• Seizures that begin in the first year of life
• Seizures that are often triggered by fever or illness
• Developmental delays
• Cognitive impairment
• Behavioral problems
• Speech and language delays

Diagnosis of EIEE9

Diagnosing EIEE9 can be challenging, as it is a rare disorder and the symptoms can be similar to other conditions. However, NGS genetic testing can help identify mutations in the PCDH19 gene that are associated with EIEE9. This can provide a definitive diagnosis and help guide treatment options.

In addition to genetic testing, doctors may use other diagnostic tools such as EEG (electroencephalogram) and MRI (magnetic resonance imaging) to help diagnose EIEE9.

NGS Genetic DNA Test Cost

The cost of NGS genetic testing for EIEE9 can vary depending on the laboratory and location. In India, the cost of the test is typically around INR 20,000.

It is important to note that genetic testing may not be covered by insurance, so patients should check with their provider before undergoing testing.

Conclusion

Early infantile epileptic encephalopathy type 9 is a rare genetic disorder that can be challenging to diagnose. However, NGS genetic testing can provide a definitive diagnosis and help guide treatment options. The cost of the test is typically around INR 20,000 in India. If you suspect that you or a loved one may have EIEE9, speak to a healthcare provider about genetic testing options.

At DNA Labs India, we offer NGS genetic testing for a wide range of genetic disorders, including EIEE9. Contact us today to learn more about our testing services.

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 PCDH19 Gene Early infantile epileptic encephalopathy type 9 NGS Genetic DNA Test