AGL Gene Glycogen storage disease type 3 Genetic Test
Cost: AED 4400.0
Symptoms and Diagnosis
Glycogen storage disease type 3 (GSD3), also known as Cori disease or Forbes disease, is an inherited metabolic disorder. It is characterized by a deficiency of the enzyme amylo-1,6-glucosidase, which is responsible for breaking down glycogen into glucose in the liver and muscles.
Test Components
- AGL Gene Glycogen storage disease type 3 Genetic Test
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 AGL Gene Glycogen storage disease type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 3.
Test Details
The AGL gene is associated with glycogen storage disease type 3 (GSD3), also known as Cori disease or Forbes disease. GSD3 is an inherited metabolic disorder characterized by a deficiency of the enzyme amylo-1,6-glucosidase, which is responsible for breaking down glycogen into glucose in the liver and muscles.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. In the context of GSD3, an NGS genetic test would involve sequencing the AGL gene to identify any mutations or variations that may be responsible for the disease.
This type of genetic testing can help in confirming a diagnosis of GSD3, identifying carriers of the disease, and providing information about the specific genetic variants present in an individual. It can also be used for prenatal testing and family planning purposes.
It is important to note that genetic testing for GSD3 should be done under the guidance of a healthcare professional or genetic counselor, who can help interpret the results and provide appropriate counseling and management options.
Test Name | AGL Gene Glycogen storage disease type 3 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 AGL Gene Glycogen storage disease type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 3 |
Test Details |
The AGL gene is associated with glycogen storage disease type 3 (GSD3), also known as Cori disease or Forbes disease. GSD3 is an inherited metabolic disorder characterized by a deficiency of the enzyme amylo-1,6-glucosidase, which is responsible for breaking down glycogen into glucose in the liver and muscles. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. In the context of GSD3, an NGS genetic test would involve sequencing the AGL gene to identify any mutations or variations that may be responsible for the disease. This type of genetic testing can help in confirming a diagnosis of GSD3, identifying carriers of the disease, and providing information about the specific genetic variants present in an individual. It can also be used for prenatal testing and family planning purposes. It is important to note that genetic testing for GSD3 should be done under the guidance of a healthcare professional or genetic counselor, who can help interpret the results and provide appropriate counseling and management options. |