COL4A2 Gene Porencephaly type 2 Genetic Test
Components: COL4A2 Gene Porencephaly type 2 Genetic Test
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 COL4A2 Gene Porencephaly type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL4A2 Gene Porencephaly type 2.
Test Details: The COL4A2 gene is responsible for providing instructions for making a protein called type IV collagen alpha-2 chain. This protein is a major component of basement membranes, which are thin, sheet-like structures that provide support and stability to tissues and organs. Porencephaly type 2 is a rare neurological disorder characterized by the presence of fluid-filled cavities or cysts in the brain. This condition is caused by mutations in the COL4A2 gene, which disrupt the normal production or structure of the type IV collagen alpha-2 chain protein. These mutations can lead to abnormalities in the development and maintenance of basement membranes in the brain, resulting in the formation of cysts. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and detect mutations or variations in their DNA sequences. In the case of COL4A2 gene porencephaly type 2, NGS genetic testing can be used to identify specific mutations or variations in the COL4A2 gene that are associated with this condition. This information can help with diagnosis, genetic counseling, and potentially guide treatment decisions.
Test Name | COL4A2 Gene Porencephaly type 2 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 COL4A2 Gene Porencephaly type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COL4A2 Gene Porencephaly type 2 |
Test Details |
The COL4A2 gene is responsible for providing instructions for making a protein called type IV collagen alpha-2 chain. This protein is a major component of basement membranes, which are thin, sheet-like structures that provide support and stability to tissues and organs. Porencephaly type 2 is a rare neurological disorder characterized by the presence of fluid-filled cavities or cysts in the brain. This condition is caused by mutations in the COL4A2 gene, which disrupt the normal production or structure of the type IV collagen alpha-2 chain protein. These mutations can lead to abnormalities in the development and maintenance of basement membranes in the brain, resulting in the formation of cysts. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and detect mutations or variations in their DNA sequences. In the case of COL4A2 gene porencephaly type 2, NGS genetic testing can be used to identify specific mutations or variations in the COL4A2 gene that are associated with this condition. This information can help with diagnosis, genetic counseling, and potentially guide treatment decisions. |