GLB1 Gene GM1-gangliosidosis Genetic Test
Cost: 4400.0 AED
Introduction
GM1 gangliosidosis is a rare genetic disorder caused by a deficiency in the enzyme beta-galactosidase, which is produced by the GLB1 gene. This deficiency leads to the accumulation of GM1 ganglioside, a type of fat molecule, in the body. DNA Labs UAE offers a comprehensive genetic test to diagnose GM1 gangliosidosis and identify carriers of the genetic mutation.
Test Components
- NGS Technology
- Neurological Disorders
- Genetics
Sample Condition
The test can be performed on blood or extracted DNA. Alternatively, a single drop of blood can be collected on an FTA Card for analysis.
Report Delivery
The test results are typically delivered within 3 to 4 weeks.
Method
The GLB1 gene GM1-gangliosidosis genetic test utilizes NGS technology to analyze the GLB1 gene and identify any mutations or variations that may be causing GM1 gangliosidosis.
Test Type
The test is specifically designed to diagnose neurological disorders, including GM1 gangliosidosis.
Doctor
The test is conducted under the supervision of a neurologist.
Pre Test Information
Prior to the test, it is important to provide the clinical history of the patient who is undergoing the GLB1 gene GM1-gangliosidosis NGS genetic DNA test. Additionally, a genetic counseling session is recommended to draw a pedigree chart of family members affected by GM1 gangliosidosis.
Test Details
The GLB1 gene is responsible for producing the beta-galactosidase enzyme, which is crucial for breaking down GM1 ganglioside. When there is a deficiency in beta-galactosidase, GM1 ganglioside accumulates in the body, leading to GM1 gangliosidosis. NGS genetic testing is an effective method to analyze the GLB1 gene and identify any mutations or variations that may be causing the disorder. This test can diagnose individuals showing symptoms of GM1 gangliosidosis and identify carriers of the genetic mutation. Early diagnosis is essential for managing symptoms and providing appropriate care and support. Furthermore, NGS genetic testing is valuable for genetic counseling and family planning purposes.
Test Name | GLB1 Gene GM1-gangliosidosis 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 GLB1 Gene GM1-gangliosidosis NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GLB1 Gene GM1-gangliosidosis |
Test Details | The GLB1 gene is responsible for producing an enzyme called beta-galactosidase, which is necessary for breaking down a type of fat molecule called GM1 ganglioside. GM1 gangliosidosis is a rare genetic disorder that occurs when there is a deficiency in beta-galactosidase, leading to the accumulation of GM1 ganglioside in the body. NGS (next-generation sequencing) genetic testing can be used to analyze the GLB1 gene and identify any mutations or variations that may be causing GM1 gangliosidosis. This type of testing can be used to diagnose the condition in individuals who are showing symptoms, as well as identify carriers of the genetic mutation who may pass it on to their children. Early diagnosis of GM1 gangliosidosis is important for managing symptoms and providing appropriate care and support to affected individuals. NGS genetic testing can also be useful for genetic counseling and family planning purposes. |