SLC13A5 Gene Early Infantile Epileptic Encephalopathy Type 25 Genetic Test
Cost: AED 4400.0
Test Components:
- 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 SLC13A5 Gene Early Infantile Epileptic Encephalopathy Type 25 NGS Genetic DNA Test
A Genetic Counselling session to draw a pedigree chart of family members affected with SLC13A5 Gene Early Infantile Epileptic Encephalopathy Type 25
Test Details:
The SLC13A5 gene is associated with a rare genetic disorder called Early Infantile Epileptic Encephalopathy type 25 (EIEE25). This disorder is characterized by seizures that begin in the first few months of life and developmental delays.
The SLC13A5 gene provides instructions for making a protein that is involved in the transport of ions (charged particles) across cell membranes. Mutations in this gene can disrupt the normal function of this protein, leading to abnormal brain activity and seizures.
NGS (Next Generation Sequencing) genetic testing is a type of DNA testing that can analyze multiple genes at once, quickly and accurately. This type of testing can be used to identify mutations in the SLC13A5 gene that may be causing EIEE25.
NGS testing can be helpful for diagnosing this disorder and guiding treatment decisions. If a mutation is identified through NGS testing, genetic counseling may be recommended to discuss the implications for the individual and their family members.
Treatment for EIEE25 may include anti-seizure medications, physical and occupational therapy, and supportive care for developmental delays.
Test Name | SLC13A5 Gene Early infantile epileptic encephalopathy type 25 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 SLC13A5 Gene Early infantile epileptic encephalopathy type 25 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC13A5 Gene Early infantile epileptic encephalopathy type 25 |
Test Details |
The SLC13A5 gene is associated with a rare genetic disorder called Early Infantile Epileptic Encephalopathy type 25 (EIEE25). This disorder is characterized by seizures that begin in the first few months of life and developmental delays. The SLC13A5 gene provides instructions for making a protein that is involved in the transport of ions (charged particles) across cell membranes. Mutations in this gene can disrupt the normal function of this protein, leading to abnormal brain activity and seizures. NGS (Next Generation Sequencing) genetic testing is a type of DNA testing that can analyze multiple genes at once, quickly and accurately. This type of testing can be used to identify mutations in the SLC13A5 gene that may be causing EIEE25. NGS testing can be helpful for diagnosing this disorder and guiding treatment decisions. If a mutation is identified through NGS testing, genetic counseling may be recommended to discuss the implications for the individual and their family members. Treatment for EIEE25 may include anti-seizure medications, physical and occupational therapy, and supportive care for developmental delays. |