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ALDOA Gene Glycogen storage disease type 12 Genetic Test Cost

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

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The ALDOA gene plays a crucial role in the glycolysis pathway, which is essential for energy production in cells. Mutations in the ALDOA gene can lead to Glycogen Storage Disease Type 12 (GSD XII), a rare metabolic disorder characterized by muscle weakness, fatigue, and myalgia. This condition arises from the body’s inability to properly break down glycogen, a stored form of glucose, due to the deficient activity of the aldolase A enzyme.

To diagnose GSD XII, a genetic test targeting the ALDOA gene can be conducted. This test is vital for confirming the diagnosis, understanding the disease’s progression, and guiding treatment options. It involves analyzing the patient’s DNA to identify mutations in the ALDOA gene that are responsible for the condition.

In the UAE, this specific genetic test for GSD XII can be performed at DNA Labs UAE, a reputable facility known for its advanced genetic testing services. The cost of the test is set at 4400 AED. Opting for this test at DNA Labs UAE ensures that patients receive accurate and reliable results, thanks to the lab’s use of cutting-edge technology and adherence to international standards in genetic testing. This test is a crucial step for affected individuals and their families in managing the condition effectively and improving the quality of life for those diagnosed with Glycogen Storage Disease Type 12.

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ALDOA Gene Glycogen Storage Disease Type 12 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 ALDOA Gene Glycogen storage disease type 12 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 12.

Test Details:

The ALDOA gene is responsible for producing the aldolase A enzyme, which plays a crucial role in breaking down glucose for energy production in cells. Mutations in the ALDOA gene can lead to a condition known as glycogen storage disease type 12 (GSD12). Glycogen storage diseases are a group of genetic disorders characterized by abnormal storage or metabolism of glycogen, a form of glucose stored in the liver and muscles. In the case of GSD12, mutations in the ALDOA gene impair the function of the aldolase A enzyme, leading to a buildup of glycogen in tissues and organs.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously, providing a comprehensive evaluation of an individual’s genetic makeup. In the context of GSD12, NGS genetic testing can be used to identify mutations in the ALDOA gene, confirming the diagnosis of the condition. By detecting mutations in the ALDOA gene, NGS genetic testing can help determine the underlying cause of glycogen storage disease type 12. This information can be useful for genetic counseling, family planning, and potentially guiding treatment strategies. Additionally, NGS testing can also be beneficial for early diagnosis, allowing for prompt intervention and management of the condition.

Test Name ALDOA Gene Glycogen storage disease type 12 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 ALDOA Gene Glycogen storage disease type 12 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 12
Test Details

The ALDOA gene is responsible for producing the aldolase A enzyme, which plays a crucial role in breaking down glucose for energy production in cells. Mutations in the ALDOA gene can lead to a condition known as glycogen storage disease type 12 (GSD12).

Glycogen storage diseases are a group of genetic disorders characterized by abnormal storage or metabolism of glycogen, a form of glucose stored in the liver and muscles. In the case of GSD12, mutations in the ALDOA gene impair the function of the aldolase A enzyme, leading to a buildup of glycogen in tissues and organs.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously, providing a comprehensive evaluation of an individual’s genetic makeup. In the context of GSD12, NGS genetic testing can be used to identify mutations in the ALDOA gene, confirming the diagnosis of the condition.

By detecting mutations in the ALDOA gene, NGS genetic testing can help determine the underlying cause of glycogen storage disease type 12. This information can be useful for genetic counseling, family planning, and potentially guiding treatment strategies. Additionally, NGS testing can also be beneficial for early diagnosis, allowing for prompt intervention and management of the condition.

SKU: TEST-2358 Category:

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