TBC1D24 Gene Familial Infantile Myoclonic Epilepsy Genetic Test
At DNA Labs UAE, we offer the TBC1D24 Gene Familial Infantile Myoclonic Epilepsy Genetic Test for individuals who are experiencing symptoms of this rare genetic disorder. This test can help diagnose and manage the condition, providing valuable information for both patients and their families.
Test Details
The TBC1D24 gene is associated with familial infantile myoclonic epilepsy (FIME), a condition characterized by seizures and muscle twitching (myoclonus) that typically begins in infancy or early childhood. The TBC1D24 gene plays a crucial role in regulating the activity of other proteins involved in the function of nerve cells in the brain. Mutations in this gene can disrupt the normal function of these proteins, leading to abnormal electrical activity in the brain and the development of seizures.
Our TBC1D24 Gene Familial Infantile Myoclonic Epilepsy Genetic Test utilizes NGS (next-generation sequencing) technology to analyze large amounts of DNA and identify genetic variations that may be contributing to the condition. This advanced testing method provides a more comprehensive analysis of the TBC1D24 gene compared to traditional genetic testing methods, which may only analyze a limited number of genes or specific regions of the genome.
By identifying a TBC1D24 gene mutation through NGS testing, we can confirm a diagnosis of FIME and provide valuable information for treatment decisions. Additionally, this test can help assess the risk of inheriting the condition for family members.
Test Components and Price
The TBC1D24 Gene Familial Infantile Myoclonic Epilepsy Genetic Test is priced at 4400.0 AED. The test requires a blood sample or extracted DNA, or one drop of blood on an FTA card. The report will be delivered within 3 to 4 weeks.
Symptoms and Diagnosis
FIME is characterized by seizures and muscle twitching that typically begin in infancy or early childhood. If you or your child are experiencing these symptoms, it is recommended to consult with a neurologist for further evaluation and diagnosis.
Referring Doctor and Test Department
Our TBC1D24 Gene Familial Infantile Myoclonic Epilepsy Genetic Test is conducted under the supervision of a neurologist. The test is performed in our Genetics department, ensuring accurate and reliable results.
Pre-Test Information
Prior to undergoing the TBC1D24 Gene Familial Infantile Myoclonic Epilepsy Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by FIME. This information is crucial for a comprehensive analysis and interpretation of the test results.
Conclusion
If you or your loved one is experiencing symptoms of familial infantile myoclonic epilepsy, our TBC1D24 Gene Familial Infantile Myoclonic Epilepsy Genetic Test can provide valuable insights for diagnosis and treatment decisions. By utilizing NGS technology, we can analyze the TBC1D24 gene and identify potential mutations that may be causing the condition. Our experienced team of geneticists and neurologists are dedicated to providing accurate and reliable results, ensuring the best possible care for our patients.
For more information or to schedule an appointment, please contact DNA Labs UAE.
| Test Name | TBC1D24 Gene Familial infantile myoclonic epilepsy 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 TBC1D24 Gene Familial infantile myoclonic epilepsy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TBC1D24 Gene Familial infantile myoclonic epilepsy |
| Test Details |
The TBC1D24 gene is associated with familial infantile myoclonic epilepsy (FIME), which is a rare genetic disorder characterized by seizures and muscle twitching (myoclonus) that usually begins in infancy or early childhood. The TBC1D24 gene provides instructions for making a protein that helps regulate the activity of other proteins involved in the function of nerve cells in the brain. Mutations in this gene can disrupt the normal function of these proteins, leading to abnormal electrical activity in the brain and the development of seizures. NGS (next-generation sequencing) genetic testing can identify mutations in the TBC1D24 gene that may be causing FIME. This type of testing uses advanced sequencing technology to rapidly analyze large amounts of DNA and identify genetic variations that may be contributing to a particular condition. NGS testing can provide a more comprehensive analysis of the TBC1D24 gene than traditional genetic testing methods, which may only analyze a limited number of genes or specific regions of the genome. Identification of a TBC1D24 gene mutation through NGS testing can help confirm a diagnosis of FIME and inform treatment decisions. It can also provide valuable information for family members who may be at risk of inheriting the condition. Genetic counseling is recommended for individuals and families affected by FIME to discuss the implications of genetic testing and the options for managing the condition. |
