GBE1 Gene Andersen disease Genetic Test
Cost: 4400.0 AED
Introduction
Andersen disease, also known as glycogen storage disease type IV (GSD IV), is a rare genetic disorder caused by mutations in the GBE1 gene. This gene provides instructions for making an enzyme called glycogen branching enzyme. Mutations in the GBE1 gene lead to the accumulation of abnormal glycogen in various tissues and organs, resulting in liver and muscle damage.
Test Details
The GBE1 Gene Andersen disease Genetic Test is a type of genetic testing that utilizes NGS (Next-Generation Sequencing) technology. This advanced sequencing method allows for the analysis of multiple genes simultaneously, including the GBE1 gene. By identifying mutations in the GBE1 gene associated with Andersen disease, this test can confirm a diagnosis, predict disease progression, and guide treatment decisions.
Components
- Test Name: GBE1 Gene Andersen 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: Metabolic Disorders
- Doctor: General Physician
- Test Department: Genetics
Pre Test Information
Prior to undergoing the GBE1 Gene Andersen disease Genetic Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected by Andersen disease. This information helps in the interpretation of test results.
Conclusion
Genetic testing for Andersen disease should always be carried out under the guidance of a healthcare professional, such as a genetic counselor or medical geneticist. They can provide appropriate counseling and interpretation of the test results, ensuring accurate diagnosis, disease progression prediction, and effective treatment decisions.
| Test Name | GBE1 Gene Andersen disease 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 GBE1 Gene Andersen disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Andersen disease |
| Test Details |
The GBE1 gene is responsible for providing instructions for making an enzyme called glycogen branching enzyme. Mutations in the GBE1 gene can lead to a rare genetic disorder known as Andersen disease or glycogen storage disease type IV (GSD IV). Andersen disease is characterized by the accumulation of an abnormal form of glycogen, a complex sugar molecule, in various tissues and organs of the body. This buildup of abnormal glycogen disrupts normal cellular function and can lead to progressive liver and muscle damage. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. It allows for the rapid and efficient analysis of large amounts of genetic information, including the GBE1 gene. NGS genetic testing for Andersen disease can identify mutations in the GBE1 gene that are associated with the condition. This can help in confirming a diagnosis, predicting disease progression, and guiding treatment decisions. It is important to note that genetic testing for Andersen disease should be done under the guidance of a healthcare professional, such as a genetic counselor or medical geneticist, who can provide appropriate counseling and interpretation of the results. |
