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GAA Gene Glycogen storage disease type 2 Genetic Test Cost

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

-21%

Glycogen Storage Disease Type 2, also known as Pompe disease, is a rare genetic disorder caused by mutations in the GAA gene. This gene is responsible for producing an enzyme called acid alpha-glucosidase, which is crucial for breaking down glycogen into glucose within cells. Mutations in the GAA gene lead to the accumulation of glycogen in various tissues, particularly in muscles, impairing their function.

To diagnose this condition, genetic testing for mutations in the GAA gene is essential. DNA Labs UAE offers a comprehensive genetic test to identify mutations in the GAA gene, aiding in the diagnosis of Glycogen Storage Disease Type 2. The test is a vital tool for confirming the disease, understanding its severity, and planning appropriate treatment and management strategies.

The cost of the GAA gene genetic test at DNA Labs UAE is 4400 AED. The test involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in the laboratory to detect the presence of mutations in the GAA gene. Results from this test can provide crucial information for affected individuals and their families regarding the condition, potential treatments, and the risk of passing the mutation to future generations.

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GAA Gene Glycogen Storage Disease Type 2 Genetic Test

At DNA Labs UAE, we offer the GAA Gene Glycogen Storage Disease Type 2 Genetic Test. This genetic test analyzes the GAA gene for mutations associated with glycogen storage disease type 2 (GSD2), also known as Pompe disease.

Test Details

GSD2 is a rare genetic disorder characterized by the buildup of glycogen in various tissues, particularly in muscles and the liver. Our GAA gene glycogen storage disease type 2 NGS genetic test uses next-generation sequencing (NGS) technology to examine the entire coding region of the GAA gene, which encodes the enzyme acid alpha-glucosidase.

Mutations in the GAA gene can result in a deficiency or dysfunction of the enzyme, leading to the accumulation of glycogen. Our NGS genetic testing allows for a comprehensive analysis of the GAA gene, identifying various types of mutations, including point mutations, insertions, deletions, and duplications.

This enables us to provide an accurate diagnosis and identification of disease-causing mutations in individuals suspected of having GSD2. Our test can be useful for confirming a diagnosis, predicting the severity of the disease, providing information on disease progression, and guiding treatment decisions.

Additionally, our GAA gene glycogen storage disease type 2 NGS genetic test can be used for carrier testing in individuals with a family history of GSD2 or for prenatal testing in couples at risk of having an affected child.

It is important to note that genetic testing should be performed and interpreted by healthcare professionals with expertise in genetics. We recommend genetic counseling to discuss the implications and potential outcomes of the test results.

Test Components and Price

  • Test Name: GAA Gene Glycogen Storage Disease Type 2 Genetic Test
  • Components: GAA gene analysis
  • Price: 4400.0 AED

Sample Condition

We accept the following sample conditions:

  • Blood
  • Extracted DNA
  • One drop of blood on FTA Card

Report Delivery

Our report delivery time is typically 3 to 4 weeks from the date of sample collection.

Method

We utilize NGS technology for our GAA Gene Glycogen Storage Disease Type 2 Genetic Test.

Test Type

Our GAA Gene Glycogen Storage Disease Type 2 Genetic Test falls under the category of Metabolic Disorders.

Doctor

Our test can be ordered by a General Physician.

Test Department

Our GAA Gene Glycogen Storage Disease Type 2 Genetic Test is conducted in our Genetics department.

Pre Test Information

Prior to undergoing the GAA Gene Glycogen Storage Disease Type 2 NGS Genetic DNA Test, we recommend providing a clinical history of the patient. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected with Glycogen Storage Disease Type 2.

For more information or to schedule an appointment for the GAA Gene Glycogen Storage Disease Type 2 Genetic Test, please contact DNA Labs UAE.

Test Name GAA Gene Glycogen storage disease type 2 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 Glycogen storage disease type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 2
Test Details

GAA gene glycogen storage disease type 2 NGS genetic test is a genetic test that analyzes the GAA gene for mutations associated with glycogen storage disease type 2 (GSD2), also known as Pompe disease. GSD2 is a rare genetic disorder characterized by the buildup of glycogen in various tissues, particularly in muscles and the liver.

The test uses next-generation sequencing (NGS) technology to examine the entire coding region of the GAA gene, which encodes the enzyme acid alpha-glucosidase. Mutations in this gene result in a deficiency or dysfunction of the enzyme, leading to the accumulation of glycogen.

NGS genetic testing allows for a comprehensive analysis of the GAA gene, identifying various types of mutations, including point mutations, insertions, deletions, and duplications. This enables accurate diagnosis and identification of disease-causing mutations in individuals suspected of having GSD2.

The test can be useful for confirming a diagnosis, predicting the severity of the disease, providing information on disease progression, and guiding treatment decisions. It can also be used for carrier testing in individuals with a family history of GSD2 or for prenatal testing in couples at risk of having an affected child.

It is important to note that genetic testing should be performed and interpreted by healthcare professionals with expertise in genetics, and genetic counseling is recommended to discuss the implications and potential outcomes of the test results.

SKU: TEST-2363 Category:

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