GBA Gene Gaucher Disease Type 1 Genetic Test
Test Components
- Price: 3200.0 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 GBA Gene Gaucher Disease Type 1 NGS Genetic DNA Test
A Genetic Counselling session to draw a pedigree chart of family members affected with Gaucher disease type 1
Test Details
GBA gene Gaucher Disease Type 1 NGS genetic test is a genetic test that analyzes the GBA gene for mutations associated with Gaucher disease type 1. Gaucher disease is a rare genetic disorder characterized by the buildup of a fatty substance called glucocerebroside in certain organs and tissues, particularly the spleen, liver, and bone marrow. The GBA gene provides instructions for producing an enzyme called glucocerebrosidase, which is responsible for breaking down glucocerebroside. Mutations in the GBA gene can lead to reduced or absent activity of glucocerebrosidase, resulting in the accumulation of glucocerebroside and the development of Gaucher disease.
NGS (Next-Generation Sequencing) is a high-throughput DNA sequencing technology that allows for the rapid and cost-effective analysis of multiple genes simultaneously. In the case of the GBA gene Gaucher Disease Type 1 NGS genetic test, it involves sequencing the entire coding region of the GBA gene to identify any disease-causing mutations. This genetic test can help diagnose Gaucher disease type 1 and determine the specific genetic cause of the condition. It can also be used for carrier testing in individuals with a family history of Gaucher disease or for prenatal testing in couples who are at risk of having a child with the condition.
It is important to note that the GBA gene Gaucher Disease Type 1 NGS genetic test is typically performed by a healthcare professional or genetic counselor who can provide appropriate genetic counseling and interpretation of the test results.
Test Name | GBA Gene Gaucher disease type 1 Genetic Test |
---|---|
Components | |
Price | 3200.0 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 GBA Gene Gaucher disease type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Gaucher disease type 1 |
Test Details |
GBA gene Gaucher disease type 1 NGS genetic test is a genetic test that analyzes the GBA gene for mutations associated with Gaucher disease type 1. Gaucher disease is a rare genetic disorder characterized by the buildup of a fatty substance called glucocerebroside in certain organs and tissues, particularly the spleen, liver, and bone marrow. The GBA gene provides instructions for producing an enzyme called glucocerebrosidase, which is responsible for breaking down glucocerebroside. Mutations in the GBA gene can lead to reduced or absent activity of glucocerebrosidase, resulting in the accumulation of glucocerebroside and the development of Gaucher disease. NGS (Next-Generation Sequencing) is a high-throughput DNA sequencing technology that allows for the rapid and cost-effective analysis of multiple genes simultaneously. In the case of the GBA gene Gaucher disease type 1 NGS genetic test, it involves sequencing the entire coding region of the GBA gene to identify any disease-causing mutations. This genetic test can help diagnose Gaucher disease type 1 and determine the specific genetic cause of the condition. It can also be used for carrier testing in individuals with a family history of Gaucher disease or for prenatal testing in couples who are at risk of having a child with the condition. It is important to note that the GBA gene Gaucher disease type 1 NGS genetic test is typically performed by a healthcare professional or genetic counselor who can provide appropriate genetic counseling and interpretation of the test results. |