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PRKAG2 Gene Glycogen storage disease of heart lethal Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

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The PRKAG2 gene plays a crucial role in the regulation of energy metabolism within the heart and skeletal muscles by controlling the production and use of glycogen, a stored form of glucose. Mutations in the PRKAG2 gene can lead to a rare form of glycogen storage disease specifically affecting the heart, known as PRKAG2 cardiac syndrome. This condition is characterized by an abnormal accumulation of glycogen in the heart’s cells, leading to a range of potentially lethal cardiac issues, including arrhythmias, heart failure, and hypertrophic cardiomyopathy.

To diagnose this condition, genetic testing is crucial. DNA Labs UAE offers a specialized genetic test to identify mutations in the PRKAG2 gene, providing essential information for the diagnosis, management, and treatment of affected individuals. The test, priced at 4400 AED, involves analyzing the patient’s DNA to look for specific genetic alterations associated with the disease. Early detection through this test can be life-saving, allowing for timely interventions to manage symptoms and reduce the risk of severe cardiac complications.

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PRKAG2 Gene Glycogen Storage Disease of Heart Lethal Genetic Test

Are you concerned about glycogen storage disease of the heart? DNA Labs UAE offers the PRKAG2 Gene Glycogen Storage Disease of Heart Lethal Genetic Test to provide accurate diagnosis and management options. Let’s explore the details of this genetic test:

Test Components and Price

  • Test Name: PRKAG2 Gene Glycogen Storage Disease of Heart Lethal 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

Prior to undergoing the PRKAG2 Gene Glycogen Storage Disease of Heart Lethal Genetic Test, it is important to provide the clinical history of the patient. A genetic counseling session may be conducted to draw a pedigree chart of family members affected by glycogen storage disease of the heart (lethal).

Test Details

The PRKAG2 gene encodes the protein known as 5′-AMP-activated protein kinase (AMPK). This protein plays a crucial role in regulating energy metabolism in cells, including the heart muscle cells. Glycogen storage disease of the heart (GSD-Heart) is a rare genetic disorder caused by mutations in the PRKAG2 gene. It is characterized by the abnormal accumulation of glycogen in the heart muscle, leading to impaired cardiac function.

Individuals affected by GSD-Heart may experience symptoms such as heart failure, arrhythmias, and sudden cardiac death. To identify mutations in the PRKAG2 gene that may be causing the disease, NGS (Next-Generation Sequencing) genetic testing is used. This testing method allows for a comprehensive and efficient analysis of the gene, enabling healthcare professionals to make an accurate diagnosis and provide appropriate management and treatment options.

Overall, the PRKAG2 gene NGS genetic test is an important tool in the diagnosis and management of glycogen storage disease of the heart. It provides valuable information for both patients and healthcare providers, allowing for personalized care and treatment.

Test Name PRKAG2 Gene Glycogen storage disease of heart lethal 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 PRKAG2 Gene Glycogen storage disease of heart (lethal) NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease of heart (lethal)
Test Details

The PRKAG2 gene is responsible for encoding the protein known as 5′-AMP-activated protein kinase (AMPK). This protein plays a crucial role in regulating energy metabolism in cells, including the heart muscle cells.

Glycogen storage disease of the heart (GSD-Heart) is a rare genetic disorder caused by mutations in the PRKAG2 gene. It is characterized by the abnormal accumulation of glycogen in the heart muscle, leading to impaired cardiac function. This condition is usually lethal, and affected individuals may experience symptoms such as heart failure, arrhythmias, and sudden cardiac death.

NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously. In the context of GSD-Heart, NGS genetic testing can be used to identify mutations in the PRKAG2 gene that may be causing the disease. This testing method allows for a more comprehensive and efficient analysis of the gene, enabling healthcare professionals to make an accurate diagnosis and provide appropriate management and treatment options.

Overall, PRKAG2 gene NGS genetic testing is an important tool in the diagnosis and management of glycogen storage disease of the heart, providing valuable information for both patients and healthcare providers.

SKU: TEST-2353 Category:

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