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PNKP Gene Early infantile epileptic encephalopathy type 10 Genetic Test

4,400 د.إ

-21%

The PNKP gene plays a crucial role in DNA repair and maintenance, and mutations in this gene are associated with early infantile epileptic encephalopathy type 10 (EIEE10), a severe neurological disorder. This condition is characterized by frequent seizures that begin in infancy, developmental delays, and other potential neurological complications. Identifying mutations in the PNKP gene is essential for diagnosing EIEE10, guiding treatment options, and providing information on the prognosis.

DNA Labs UAE offers a genetic test specifically designed to detect mutations in the PNKP gene. The test is a vital tool for healthcare professionals and families seeking answers for infants showing symptoms consistent with EIEE10. By providing a definitive diagnosis, this test can help in the management and treatment planning for affected individuals.

The cost of the PNKP gene test at DNA Labs UAE is 4400 AED. This investment includes the collection of a DNA sample, typically through a blood draw or cheek swab, and comprehensive analysis to identify any mutations in the PNKP gene. Results from this test can offer invaluable insights for affected families and contribute to a better understanding of the condition, potentially leading to more effective management and care strategies for those diagnosed with early infantile epileptic encephalopathy type 10.

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PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 Genetic Test

Are you looking for a genetic test to diagnose Early Infantile Epileptic Encephalopathy Type 10 (EIEE10)? DNA Labs UAE offers the PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 Genetic Test.

Test Components

  • Price: 4400.0 AED
  • Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery

The report will be delivered within 3 to 4 weeks.

Method

The PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 Genetic Test utilizes NGS (Next-Generation Sequencing) technology.

Test Type

This test is specifically designed to diagnose neurological disorders.

Doctor

A neurologist will be overseeing the PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 Genetic Test.

Test Department

The test will be conducted by the Genetics department.

Pre Test Information

Prior to the test, a genetic counseling session will be conducted to gather the clinical history of the patient. This session will also involve drawing a pedigree chart of family members affected by PNKP Gene Early Infantile Epileptic Encephalopathy Type 10.

Test Details

The PNKP gene is associated with Early Infantile Epileptic Encephalopathy Type 10 (EIEE10), a rare genetic disorder characterized by early-onset seizures, developmental delays, and intellectual disability. The NGS genetic test is a diagnostic tool used to identify mutations in the PNKP gene. The patient’s blood or saliva sample will be analyzed to detect any genetic variations that may be causing the disorder. The results of the test will help healthcare professionals provide accurate diagnosis and personalized treatment plans for individuals with EIEE10.

Test Name PNKP Gene Early infantile epileptic encephalopathy type 10 Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test 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
Test Details

The PNKP gene is associated with Early Infantile Epileptic Encephalopathy Type 10 (EIEE10), a rare genetic disorder characterized by early-onset seizures, developmental delays, and intellectual disability. The NGS (Next-Generation Sequencing) genetic test is a diagnostic tool used to identify mutations in the PNKP gene. The test involves analyzing the DNA sequence of the patient’s blood or saliva sample to detect any genetic variations that may be causing the disorder. The results of the test can help healthcare professionals provide accurate diagnosis and personalized treatment plans for individuals with EIEE10.