PIGA Gene Early Infantile Epileptic Encephalopathy Type 20 Genetic Test
Test Name: PIGA Gene Early Infantile Epileptic Encephalopathy Type 20 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
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 PIGA Gene Early Infantile Epileptic Encephalopathy Type 20 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIGA Gene Early Infantile Epileptic Encephalopathy Type 20.
Test Details
The PIGA gene is associated with Early Infantile Epileptic Encephalopathy Type 20 (EIEE20), a rare genetic disorder characterized by seizures that begin in the first months of life and developmental delays. The PIGA gene provides instructions for making a protein that is involved in the production of glycosylphosphatidylinositol (GPI) anchors, which attach proteins to the cell membrane.
Mutations in the PIGA gene can lead to a deficiency in GPI anchors, which can cause a range of symptoms including seizures, intellectual disability, and movement disorders. NGS genetic testing can be used to identify mutations in the PIGA gene that are associated with EIEE20. This type of testing uses next-generation sequencing technology to analyze a person’s DNA and identify any genetic variations that may be contributing to their symptoms.
This information can be used to make a diagnosis, guide treatment decisions, and provide information about the risk of passing the condition on to future generations.
Test Name | PIGA Gene Early infantile epileptic encephalopathy type 20 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 PIGA Gene Early infantile epileptic encephalopathy type 20 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PIGA Gene Early infantile epileptic encephalopathy type 20 |
Test Details |
The PIGA gene is associated with Early Infantile Epileptic Encephalopathy Type 20 (EIEE20), a rare genetic disorder characterized by seizures that begin in the first months of life and developmental delays. The PIGA gene provides instructions for making a protein that is involved in the production of glycosylphosphatidylinositol (GPI) anchors, which attach proteins to the cell membrane. Mutations in the PIGA gene can lead to a deficiency in GPI anchors, which can cause a range of symptoms including seizures, intellectual disability, and movement disorders. NGS genetic testing can be used to identify mutations in the PIGA gene that are associated with EIEE20. This type of testing uses next-generation sequencing technology to analyze a person’s DNA and identify any genetic variations that may be contributing to their symptoms. This information can be used to make a diagnosis, guide treatment decisions, and provide information about the risk of passing the condition on to future generations. |