TUBB2A Gene Cortical Dysplasia Complex with Other Brain Malformations Type 5 Genetic Test
Genetic testing plays a crucial role in diagnosing and managing rare genetic disorders. One such disorder is cortical dysplasia complex with other brain malformations type 5 (CDCBM5), which is associated with mutations in the TUBB2A gene. DNA Labs UAE offers a comprehensive genetic test for this disorder.
Test Details
The TUBB2A gene is responsible for the development of the cerebral cortex, the outer layer of the brain that controls consciousness, perception, and voluntary movements. Mutations in this gene can lead to abnormal formation and organization of the cerebral cortex, resulting in CDCBM5.
CDCBM5 is characterized by various neurological symptoms, including seizures, developmental delay, intellectual disability, and movement disorders. Additionally, other brain malformations like abnormal formation of the cerebellum, brainstem, and corpus callosum may also be present.
The TUBB2A Gene Cortical Dysplasia Complex with Other Brain Malformations Type 5 Genetic Test offered by DNA Labs UAE utilizes NGS (Next-Generation Sequencing) technology to identify mutations in the TUBB2A gene. This test involves sequencing the entire coding region of the gene to detect any genetic variations responsible for CDCBM5.
Test Components and Price
The cost of the TUBB2A Gene Cortical Dysplasia Complex with Other Brain Malformations Type 5 Genetic Test is AED 4400.0. The test requires a blood sample or extracted DNA, or one drop of blood on an FTA card.
Report Delivery and Method
After the sample is collected, the report will be delivered within 3 to 4 weeks. The NGS technology is used to perform the genetic analysis.
Doctor and Test Department
The TUBB2A Gene Cortical Dysplasia Complex with Other Brain Malformations Type 5 Genetic Test is conducted under the supervision of a neurologist. The test falls under the Genetics department.
Pre Test Information
Prior to undergoing the TUBB2A Gene Cortical Dysplasia Complex with Other Brain Malformations Type 5 Genetic Test, it is essential to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of affected family members.
Importance of Early Diagnosis and Genetic Counseling
Early diagnosis of CDCBM5 is crucial for managing the symptoms and providing appropriate treatment. Genetic counseling is also recommended for affected individuals and their families to understand the inheritance pattern and the risk of passing the mutation on to future generations.
| Test Name | TUBB2A Gene Cortical dysplasia complex with other brain malformations type 5 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 TUBB2A Gene Cortical dysplasia, complex, with other brain malformations, type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TUBB2A Gene Cortical dysplasia, complex, with other brain malformations, type 5 |
| Test Details |
The TUBB2A gene is associated with a rare genetic disorder called cortical dysplasia, complex, with other brain malformations, type 5 (CDCBM5). This disorder affects the development of the brain, leading to abnormal formation and organization of the cerebral cortex, which is the outer layer of the brain responsible for consciousness, perception, and voluntary movements. CDCBM5 is characterized by a range of neurological symptoms, including seizures, developmental delay, intellectual disability, and movement disorders. Other brain malformations, such as abnormal formation of the cerebellum, brainstem, and corpus callosum, may also be present. NGS genetic testing can identify mutations in the TUBB2A gene that cause CDCBM5. This test involves sequencing the entire coding region of the gene to detect any genetic variations that may be responsible for the disorder. Early diagnosis of CDCBM5 is important for managing the symptoms and providing appropriate treatment. Genetic counseling may also be recommended for affected individuals and their families to understand the inheritance pattern and risk of passing the mutation on to future generations. |
