PHKA1 Gene Muscle Glycogenosis Genetic Test
At DNA Labs UAE, we offer the PHKA1 Gene Muscle Glycogenosis Genetic Test to diagnose and detect the rare genetic disorder known as muscle glycogenosis. This test is essential in identifying mutations in the PHKA1 gene and other genes associated with glycogen metabolism disorders.
Test Details
The PHKA1 gene is responsible for producing the alpha subunit of phosphorylase kinase, an enzyme involved in glycogen metabolism. Mutations in this gene can lead to the abnormal accumulation of glycogen in muscle tissue, resulting in muscle weakness, cramps, and exercise intolerance. There are different types of muscle glycogenosis, and the severity of symptoms can vary depending on the specific genetic mutation involved.
Components and Price
The PHKA1 Gene Muscle Glycogenosis Genetic Test costs AED 4400.0. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card. The report will be delivered within 3 to 4 weeks using NGS technology.
Test Type and Department
This test falls under the category of metabolic disorders and is conducted by our Genetics department. It is recommended to consult a General Physician before undergoing this test.
Pre-Test Information
Prior to the test, it is important to provide the clinical history of the patient who is going for the PHKA1 Gene Muscle Glycogenosis NGS Genetic DNA Test. A Genetic Counselling session will also be conducted to draw a pedigree chart of family members affected by Muscle Glycogenosis.
NGS Technology
NGS (Next-Generation Sequencing) genetic testing is a powerful tool that allows for the simultaneous analysis of multiple genes or even the entire genome. In the context of muscle glycogenosis, NGS genetic testing helps identify mutations in the PHKA1 gene and provides valuable information about the inheritance pattern of the condition. This information can be useful for genetic counseling, family planning, and guiding treatment decisions.
Don’t wait any longer – get the PHKA1 Gene Muscle Glycogenosis Genetic Test at DNA Labs UAE today and gain valuable insights into your genetic makeup!
| Test Name | PHKA1 Gene Muscle glycogenosis 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 PHKA1 Gene Muscle glycogenosis NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Muscle glycogenosis |
| Test Details |
The PHKA1 gene is responsible for producing the alpha subunit of phosphorylase kinase, an enzyme involved in glycogen metabolism. Mutations in the PHKA1 gene can lead to a rare genetic disorder called muscle glycogenosis. Muscle glycogenosis refers to a group of inherited disorders characterized by the abnormal accumulation of glycogen in muscle tissue. This can result in muscle weakness, cramps, and exercise intolerance. There are different types of muscle glycogenosis, and the specific symptoms and severity can vary depending on the specific genetic mutation involved. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the simultaneous analysis of multiple genes or even the entire genome. In the context of muscle glycogenosis, NGS genetic testing can be used to identify mutations in the PHKA1 gene or other genes associated with glycogen metabolism disorders. NGS genetic testing can help confirm a diagnosis of muscle glycogenosis, determine the specific genetic mutation responsible, and provide information about the inheritance pattern of the condition. This information can be useful for genetic counseling, family planning, and potentially for guiding treatment decisions. |
