GAA Gene Pompe Disease Genetic Test
Components: GAA Gene Pompe 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: Clinical History of Patient who is going for GAA Gene Pompe disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Pompe disease.
Test Details
The GAA gene is associated with Pompe disease, which is a rare genetic disorder characterized by the buildup of glycogen in various tissues and organs, particularly the muscles. Pompe disease is caused by mutations in the GAA gene, which provides instructions for producing an enzyme called acid alpha-glucosidase (GAA).
NGS (Next-Generation Sequencing) is a high-throughput genetic testing method that can analyze multiple genes simultaneously. In the context of Pompe disease, NGS genetic testing can identify mutations in the GAA gene that may be responsible for causing the disease.
NGS genetic testing for Pompe disease typically involves obtaining a DNA sample, usually through a blood or saliva sample, from the individual being tested. The DNA is then sequenced using NGS technology to analyze the GAA gene and identify any mutations or variants that may be present.
By identifying specific mutations in the GAA gene, NGS genetic testing can help confirm a diagnosis of Pompe disease and provide valuable information for treatment and management options. It can also be used for carrier testing to determine if an individual carries a mutation in the GAA gene, which can be important for family planning and genetic counseling purposes.
| Test Name | GAA Gene Pompe 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 GAA Gene Pompe disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Pompe disease |
| Test Details |
The GAA gene is associated with Pompe disease, which is a rare genetic disorder characterized by the buildup of glycogen in various tissues and organs, particularly the muscles. Pompe disease is caused by mutations in the GAA gene, which provides instructions for producing an enzyme called acid alpha-glucosidase (GAA). NGS (Next-Generation Sequencing) is a high-throughput genetic testing method that can analyze multiple genes simultaneously. In the context of Pompe disease, NGS genetic testing can identify mutations in the GAA gene that may be responsible for causing the disease. NGS genetic testing for Pompe disease typically involves obtaining a DNA sample, usually through a blood or saliva sample, from the individual being tested. The DNA is then sequenced using NGS technology to analyze the GAA gene and identify any mutations or variants that may be present. By identifying specific mutations in the GAA gene, NGS genetic testing can help confirm a diagnosis of Pompe disease and provide valuable information for treatment and management options. It can also be used for carrier testing to determine if an individual carries a mutation in the GAA gene, which can be important for family planning and genetic counseling purposes. |
