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GBA Gene Gaucher disease type 2 Genetic Test Cost

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

-21%

The GBA Gene Gaucher Disease Type 2 Genetic Test is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the GBA gene, which are responsible for Gaucher disease type 2. This rare and severe genetic disorder is characterized by an accumulation of fatty substances in certain organs, particularly the spleen and liver, leading to a range of health issues from an early age, including enlarged organs, neurological complications, and bone diseases. Early and accurate diagnosis through genetic testing is crucial for managing symptoms and improving the quality of life for affected individuals.

The test, priced at 4400 AED, involves analyzing the patient’s DNA to detect specific mutations in the GBA gene that are linked to Gaucher disease type 2. This process is essential for confirming the diagnosis, understanding the disease’s progression, and informing treatment decisions. Conducted at DNA Labs UAE, a facility known for its state-of-the-art technology and expertise in genetic diagnostics, the GBA Gene Gaucher Disease Type 2 Genetic Test represents a critical step towards personalized medicine for patients with this challenging condition.

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GBA Gene Gaucher Disease Type 2 Genetic Test

At DNA Labs UAE, we offer the GBA Gene Gaucher Disease Type 2 Genetic Test. This test is designed to identify mutations or variations in the GBA gene that are associated with Gaucher disease type 2. Gaucher disease is a rare genetic disorder that affects the body’s ability to break down glucocerebroside, a type of fat. Gaucher disease type 2 is the most severe form of the disease and is characterized by neurological symptoms such as seizures, brain damage, and developmental delays.

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

Prior to undergoing the GBA Gene Gaucher Disease Type 2 Genetic Test, it is recommended 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 with Gaucher disease type 2.

Test Details

The GBA Gene Gaucher Disease Type 2 NGS Genetic Test utilizes Next-Generation Sequencing (NGS) technology to analyze the GBA gene for mutations or variations associated with Gaucher disease type 2. The GBA gene encodes an enzyme called glucocerebrosidase, responsible for breaking down glucocerebroside. Mutations in the GBA gene can lead to a deficiency or malfunction of this enzyme, resulting in the accumulation of glucocerebroside in various organs and tissues.

NGS technology is a high-throughput sequencing method that allows for the rapid and efficient analysis of multiple genes, including the GBA gene. This test can accurately identify specific mutations or variations in the GBA gene, aiding in the diagnosis of Gaucher disease type 2 in individuals with symptoms consistent with the condition. It can also be used for carrier testing in individuals with a family history of Gaucher disease type 2.

Furthermore, the results of this test can provide valuable information for genetic counseling and family planning decisions. Individuals at risk of passing on Gaucher disease type 2 to their children can benefit from the guidance and support of qualified healthcare professionals who specialize in genetics and genetic counseling.

It is important to note that genetic testing should always be performed and interpreted by qualified healthcare professionals. They have the expertise to provide appropriate guidance and support based on an individual’s specific situation and test results.

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

GBA gene Gaucher disease type 2 NGS genetic test is a type of genetic test that is used to identify mutations or variations in the GBA gene that are associated with Gaucher disease type 2. Gaucher disease is a rare genetic disorder that affects the body’s ability to break down a certain type of fat called glucocerebroside.

Gaucher disease type 2 is the most severe form of the disease and is characterized by neurological symptoms such as seizures, brain damage, and developmental delays. The GBA gene encodes an enzyme called glucocerebrosidase, which is responsible for breaking down glucocerebroside. Mutations in the GBA gene can lead to a deficiency or malfunction of this enzyme, resulting in the accumulation of glucocerebroside in various organs and tissues.

The NGS (Next-Generation Sequencing) genetic test is a high-throughput sequencing technology that can rapidly and efficiently analyze multiple genes, including the GBA gene, for genetic variations. This test can identify specific mutations or variations in the GBA gene that are associated with Gaucher disease type 2.

The results of this test can help diagnose Gaucher disease type 2 in individuals who have symptoms consistent with the condition. It can also be used for carrier testing in individuals with a family history of Gaucher disease type 2. Additionally, this test can aid in genetic counseling and family planning decisions for individuals at risk of passing on the disease to their children.

It is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals who specialize in genetics and genetic counseling. They can provide appropriate guidance and support based on the individual’s specific situation and test results.

SKU: TEST-2335 Category:

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