SLC16A2 Gene Pelizaeus-Merzbacher disease Genetic Test
Components: SLC16A2 Gene Pelizaeus-Merzbacher disease 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 SLC16A2 Gene Pelizaeus-Merzbacher disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC16A2 Gene Pelizaeus-Merzbacher disease.
Test Details: The SLC16A2 gene is associated with Pelizaeus-Merzbacher disease (PMD), which is a rare genetic disorder that affects the central nervous system. PMD is characterized by abnormal myelination, the process by which nerve cells are insulated with a protective covering called myelin. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses high-throughput sequencing technology to analyze multiple genes simultaneously. In the context of PMD, NGS genetic testing can be used to identify mutations or variants in the SLC16A2 gene that may be responsible for causing the disease. By analyzing the entire coding region of the SLC16A2 gene, NGS testing can provide comprehensive genetic information about potential disease-causing mutations or variants. This can help in confirming a diagnosis of PMD and may also be useful for genetic counseling and family planning purposes. It’s important to note that NGS testing is typically performed by specialized laboratories and should be ordered and interpreted by a healthcare professional, such as a geneticist or genetic counselor, with expertise in genetic testing and rare genetic disorders like PMD.
Test Name | SLC16A2 Gene Pelizaeus-Merzbacher disease 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 SLC16A2 Gene Pelizaeus-Merzbacher disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC16A2 Gene Pelizaeus-Merzbacher disease |
Test Details |
The SLC16A2 gene is associated with Pelizaeus-Merzbacher disease (PMD), which is a rare genetic disorder that affects the central nervous system. PMD is characterized by abnormal myelination, the process by which nerve cells are insulated with a protective covering called myelin. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses high-throughput sequencing technology to analyze multiple genes simultaneously. In the context of PMD, NGS genetic testing can be used to identify mutations or variants in the SLC16A2 gene that may be responsible for causing the disease. By analyzing the entire coding region of the SLC16A2 gene, NGS testing can provide comprehensive genetic information about potential disease-causing mutations or variants. This can help in confirming a diagnosis of PMD and may also be useful for genetic counseling and family planning purposes. It’s important to note that NGS testing is typically performed by specialized laboratories and should be ordered and interpreted by a healthcare professional, such as a geneticist or genetic counselor, with expertise in genetic testing and rare genetic disorders like PMD. |