Short Description

NGS genetic DNA test detecets for variant and mutation detection in PNKP gene for Early infantile epileptic encephalopathy type 10

PreTest Information

Clinical History of Patient who is going for PNKP Gene Early infantile epileptic encephalopathy type 10 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PNKP Gene Early infantile epileptic encephalopathy type 10

Detail Description

PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 NGS Genetic DNA Test

PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 (EIEE10) is a rare genetic disorder that affects young children. It is caused by mutations in the PNKP gene, which is responsible for repairing damaged DNA. When the PNKP gene is mutated, it can lead to seizures, developmental delay, and intellectual disability.

Symptoms of PNKP Gene EIEE10

The symptoms of PNKP Gene EIEE10 can vary from person to person, but they typically include:

• Seizures, which may be frequent and difficult to control
• Developmental delay, including delays in speech and motor skills
• Intellectual disability
• Abnormal muscle tone or movements
• Difficulty feeding
• Microcephaly (small head size)

Diagnosis of PNKP Gene EIEE10

PNKP Gene EIEE10 is diagnosed through genetic testing. This typically involves a Next Generation Sequencing (NGS) test, which can detect mutations in the PNKP gene. The test is usually performed on a blood or saliva sample.

It is important to note that PNKP Gene EIEE10 is a rare disorder, and other tests may be necessary to rule out other possible causes of the symptoms.

Cost of PNKP Gene EIEE10 NGS Genetic DNA Test in India

The cost of the PNKP Gene EIEE10 NGS Genetic DNA Test in India varies depending on the laboratory and location. On average, the cost of the test is around INR 20,000.

Conclusion

PNKP Gene EIEE10 is a rare genetic disorder that can cause seizures, developmental delay, and intellectual disability in young children. Diagnosis of the disorder is through genetic testing, which typically involves an NGS test. The cost of the test in India is around INR 20,000.

If you suspect that your child may have PNKP Gene EIEE10 or another genetic disorder, it is important to speak with a healthcare professional. They can provide guidance on testing and treatment options.

At DNA Labs India, we offer a range of genetic testing services, including NGS testing for PNKP Gene EIEE10. Our team of experienced professionals can help you understand your genetic risks and make informed healthcare decisions. Contact us today to learn more.

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 PNKP Gene Early infantile epileptic encephalopathy type 10 NGS Genetic DNA Test