PYGM Gene Glycogen Storage Disease Type 5 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
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 PYGM Gene Glycogen storage disease type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 5.
Test Details
The PYGM gene is responsible for producing an enzyme called muscle glycogen phosphorylase, which is involved in breaking down glycogen (a stored form of glucose) into glucose for energy production in muscle cells. Mutations in the PYGM gene can lead to a condition called glycogen storage disease type 5, also known as McArdle disease.
Glycogen storage disease type 5 is an inherited metabolic disorder characterized by the inability to break down glycogen in muscle cells. This results in muscle weakness, fatigue, and cramping during exercise. Other symptoms may include myoglobinuria (the presence of myoglobin, a protein released from damaged muscle cells, in the urine), muscle stiffness, and exercise intolerance.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. In the context of glycogen storage disease type 5, NGS genetic testing can be used to identify mutations in the PYGM gene that may be responsible for the condition.
By identifying the specific mutations in the PYGM gene, NGS genetic testing can help confirm a diagnosis of glycogen storage disease type 5 and provide information about the specific genetic variant present. This information can be useful for genetic counseling, as well as for guiding treatment and management strategies for individuals with the condition.
| Test Name | PYGM Gene Glycogen storage disease type 5 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 PYGM Gene Glycogen storage disease type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 5 |
| Test Details |
The PYGM gene is responsible for producing an enzyme called muscle glycogen phosphorylase, which is involved in breaking down glycogen (a stored form of glucose) into glucose for energy production in muscle cells. Mutations in the PYGM gene can lead to a condition called glycogen storage disease type 5, also known as McArdle disease. Glycogen storage disease type 5 is an inherited metabolic disorder characterized by the inability to break down glycogen in muscle cells. This results in muscle weakness, fatigue, and cramping during exercise. Other symptoms may include myoglobinuria (the presence of myoglobin, a protein released from damaged muscle cells, in the urine), muscle stiffness, and exercise intolerance. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. In the context of glycogen storage disease type 5, NGS genetic testing can be used to identify mutations in the PYGM gene that may be responsible for the condition. By identifying the specific mutations in the PYGM gene, NGS genetic testing can help confirm a diagnosis of glycogen storage disease type 5 and provide information about the specific genetic variant present. This information can be useful for genetic counseling, as well as for guiding treatment and management strategies for individuals with the condition. |
