GLB1 Gene GM1-gangliosidosis type 1 Genetic Test
Test Name: GLB1 Gene GM1-gangliosidosis type 1 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
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: Metabolic Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for GLB1 Gene GM1-gangliosidosis type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GM1-gangliosidosis type 1.
Test Details:
The GLB1 gene is responsible for providing instructions to produce an enzyme called beta-galactosidase. This enzyme is involved in breaking down a fatty substance called GM1-ganglioside, which is found in the nervous system. Mutations in the GLB1 gene can lead to a deficiency in beta-galactosidase activity, resulting in the accumulation of GM1-ganglioside in various tissues.
GM1-gangliosidosis type 1 is a rare genetic disorder characterized by the deficiency of beta-galactosidase activity. This leads to the accumulation of GM1-ganglioside primarily in the brain and spinal cord, causing progressive damage to the nervous system.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can analyze multiple genes simultaneously. In the case of GM1-gangliosidosis type 1, NGS genetic testing can be used to identify mutations in the GLB1 gene. This can help in confirming a diagnosis, determining the specific genetic mutation responsible for the disease, and providing information about the inheritance pattern.
NGS genetic testing can be performed on a blood or saliva sample, and the results are usually interpreted by a genetic counselor or a medical geneticist. The information obtained from the test can be used to guide medical management, provide genetic counseling to affected individuals and their families, and potentially inform the development of targeted therapies in the future.
Test Name | GLB1 Gene GM1-gangliosidosis type 1 Genetic Test |
---|---|
Components | |
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 | Metabolic Disorders |
Doctor | General Physician |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for GLB1 Gene GM1-gangliosidosis type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GM1-gangliosidosis type 1 |
Test Details |
The GLB1 gene is responsible for providing instructions to produce an enzyme called beta-galactosidase. This enzyme is involved in breaking down a fatty substance called GM1-ganglioside, which is found in the nervous system. Mutations in the GLB1 gene can lead to a deficiency in beta-galactosidase activity, resulting in the accumulation of GM1-ganglioside in various tissues. GM1-gangliosidosis type 1 is a rare genetic disorder characterized by the deficiency of beta-galactosidase activity. This leads to the accumulation of GM1-ganglioside primarily in the brain and spinal cord, causing progressive damage to the nervous system. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can analyze multiple genes simultaneously. In the case of GM1-gangliosidosis type 1, NGS genetic testing can be used to identify mutations in the GLB1 gene. This can help in confirming a diagnosis, determining the specific genetic mutation responsible for the disease, and providing information about the inheritance pattern. NGS genetic testing can be performed on a blood or saliva sample, and the results are usually interpreted by a genetic counselor or a medical geneticist. The information obtained from the test can be used to guide medical management, provide genetic counseling to affected individuals and their families, and potentially inform the development of targeted therapies in the future. |