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GAA Gene Pompe Disease Genetic Test Cost

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

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The GAA Gene Pompe Disease Genetic Test is a specialized diagnostic procedure designed to identify mutations in the GAA gene, which are responsible for Pompe Disease. This condition, also known as Glycogen Storage Disease Type II, is a rare and often fatal genetic disorder that impairs the body’s ability to break down glycogen due to the deficiency of the lysosomal acid alpha-glucosidase enzyme. The accumulation of glycogen in cells, especially muscle cells, leads to progressive muscle weakness, heart and respiratory problems, and, in severe cases, premature death.

The test involves analyzing the patient’s DNA to detect mutations in the GAA gene, offering crucial information for the diagnosis, management, and treatment planning of Pompe Disease. It is particularly important for families with a history of the condition, individuals showing symptoms of muscle weakness and respiratory difficulties, and couples considering pregnancy who wish to understand their genetic risks.

Conducted at DNA Labs UAE, a leading facility in genetic diagnostics, the GAA Gene Pompe Disease Genetic Test ensures accuracy and confidentiality, providing patients and healthcare providers with critical insights into this genetic disorder. The cost of the test is set at 4400 AED, reflecting the intricate processes and advanced technology required to accurately identify the GAA gene mutations. This investment can be invaluable for affected families, offering a pathway to early intervention and tailored treatment strategies that can significantly improve quality of life and outcomes for individuals with Pompe Disease.

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GAA Gene Pompe Disease Genetic Test

At DNA Labs UAE, we offer the GAA Gene Pompe Disease Genetic Test at a cost of 4400.0 AED. This test is used to diagnose Pompe disease, a rare genetic disorder characterized by the buildup of glycogen in various tissues.

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: Neurological Disorders
  • Doctor: Neurologist
  • Test Department: Genetics

Pre Test Information

Before undergoing the GAA Gene Pompe Disease Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by Pompe disease.

Test Details

The GAA gene is responsible for producing an enzyme called acid alpha-glucosidase (GAA), which helps break down glycogen in cells. Mutations in the GAA gene can lead to Pompe disease, an autosomal recessive disorder characterized by the buildup of glycogen in muscles.

Pompe disease can cause muscle weakness, respiratory problems, and heart abnormalities. The severity of the disease can vary, with some individuals experiencing symptoms in infancy (early-onset Pompe disease) and others developing symptoms later in life (late-onset Pompe disease).

Next-generation sequencing (NGS) is used in this genetic test to analyze multiple genes simultaneously. In the case of Pompe disease, NGS can identify mutations in the GAA gene that may be causing the disorder.

NGS genetic testing for Pompe disease can be performed using targeted gene panels or whole-exome sequencing. These tests involve extracting DNA from a blood or saliva sample and sequencing the GAA gene, as well as other relevant genes.

The resulting data is analyzed to identify any mutations or genetic variants associated with Pompe disease. This information can confirm a diagnosis and provide insights into the specific mutations involved.

Genetic testing for Pompe disease is beneficial for individuals with symptoms suggestive of the disorder, as well as for family members at risk of carrying the mutated GAA gene. The results of the test can inform treatment decisions, genetic counseling, and family planning.

It is crucial to note that genetic testing for Pompe disease should be performed and interpreted by healthcare professionals with expertise in genetic testing and counseling. The results should be discussed with a healthcare provider to fully understand their implications and explore potential treatment options.

Test Name GAA Gene Pompe disease Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for GAA Gene Pompe disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GAA Gene Pompe disease
Test Details

The GAA gene is responsible for producing an enzyme called acid alpha-glucosidase (GAA) that helps break down glycogen in cells. Mutations in the GAA gene can lead to a rare genetic disorder called Pompe disease.

Pompe disease is an autosomal recessive disorder characterized by the buildup of glycogen in various tissues, particularly in the muscles. This can lead to muscle weakness, respiratory problems, and heart abnormalities. The severity of the disease can vary widely, with some individuals experiencing symptoms in infancy (early-onset Pompe disease) and others developing symptoms later in life (late-onset Pompe disease).

Next-generation sequencing (NGS) is a genetic testing method that can analyze multiple genes simultaneously. In the context of Pompe disease, NGS can be used to identify mutations in the GAA gene that may be causing the disorder. This type of genetic testing can help confirm a diagnosis of Pompe disease and provide information about the specific mutations involved.

NGS genetic testing for Pompe disease can be performed using a variety of methods, such as targeted gene panels or whole-exome sequencing. These tests involve extracting DNA from a patient’s blood or saliva sample and sequencing the GAA gene and potentially other relevant genes. The resulting data is then analyzed to identify any mutations or genetic variants that may be associated with Pompe disease.

Genetic testing for Pompe disease can be helpful for individuals with symptoms suggestive of the disorder, as well as for family members of affected individuals who may be at risk of carrying the mutated GAA gene. The results of the genetic test can inform treatment decisions and help with genetic counseling and family planning.

It is important to note that genetic testing for Pompe disease should be performed and interpreted by healthcare professionals with expertise in genetic testing and genetic counseling. The results of the test should be discussed with a healthcare provider to fully understand their implications and any potential treatment options.

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