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PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia Genetic Test Cost

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

-21%

The PKLR gene plays a crucial role in the body’s energy production process by encoding for the enzyme pyruvate kinase, which is essential in the glycolytic pathway. A mutation in this gene can lead to Pyruvate Kinase Deficiency, a rare genetic disorder that affects red blood cells, leading to hemolytic anemia. This condition is characterized by the premature destruction of red blood cells, resulting in symptoms such as fatigue, jaundice, an enlarged spleen, and increased susceptibility to infections.

To diagnose this condition, a genetic test can be performed to identify mutations in the PKLR gene. This test is particularly vital for individuals showing symptoms of hemolytic anemia or those with a family history of the condition, as it can provide a definitive diagnosis and help in managing the disease effectively.

In the UAE, DNA Labs offers this genetic test for PKLR gene mutations. The cost of the test is 4400 AED. Conducting the test at a reputable facility like DNA Labs UAE ensures accuracy and reliability of the results, which is crucial for the subsequent management and treatment of Pyruvate Kinase Deficiency. This test is a step forward in personalized medicine, offering affected individuals and their families the necessary information to understand their condition better and make informed health decisions.

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PKLR Gene Pyruvate kinase deficiency with hemolytic anemia Genetic Test

At DNA Labs UAE, we offer the PKLR Gene Pyruvate kinase deficiency with hemolytic anemia Genetic Test at a cost of AED 4400.0. This test helps in diagnosing and understanding the symptoms of pyruvate kinase deficiency with hemolytic anemia.

Test Components

The PKLR Gene Pyruvate kinase deficiency with hemolytic anemia Genetic Test includes the following 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 PKLR Gene Pyruvate kinase deficiency with hemolytic anemia Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session is recommended to draw a pedigree chart of family members affected with Pyruvate kinase deficiency with hemolytic anemia.

Test Details

PKLR gene pyruvate kinase deficiency with hemolytic anemia is a condition that affects the PKLR gene, responsible for producing the pyruvate kinase enzyme. This enzyme plays a crucial role in the energy production process within red blood cells.

The genetic test for PKLR gene pyruvate kinase deficiency with hemolytic anemia utilizes Next-Generation Sequencing (NGS) technology. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive assessment of genetic variations.

By analyzing the PKLR gene using NGS, healthcare professionals can identify specific mutations or variations that may be responsible for the condition. This information aids in confirming a diagnosis, determining the severity of the condition, predicting the risk of complications, and guiding treatment decisions.

Genetic testing is also valuable for family planning purposes, as it helps determine the risk of passing the condition on to future generations. It can also assist in genetic counseling, enabling individuals and families to make informed decisions about their health and reproductive choices.

It is crucial to note that genetic testing should be conducted by a qualified healthcare professional who can interpret the results and provide appropriate counseling and guidance.

Test Name PKLR Gene Pyruvate kinase deficiency with hemolytic anemia 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 PKLR Gene Pyruvate kinase deficiency with hemolytic anemia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Pyruvate kinase deficiency with hemolytic anemia
Test Details

PKLR gene pyruvate kinase deficiency with hemolytic anemia is a condition that affects the PKLR gene, which provides instructions for making an enzyme called pyruvate kinase. This enzyme plays a crucial role in the energy production process within red blood cells.

A genetic test, specifically Next-Generation Sequencing (NGS), can be used to identify mutations or variations in the PKLR gene that may be associated with pyruvate kinase deficiency and hemolytic anemia. NGS is a high-throughput sequencing technology that allows for the analysis of multiple genes simultaneously, providing a comprehensive assessment of genetic variations.

By analyzing the PKLR gene using NGS, healthcare professionals can identify specific mutations or variations that may be responsible for the condition. This information can help in confirming a diagnosis, determining the severity of the condition, predicting the risk of complications, and guiding treatment decisions.

Genetic testing can also be useful for family planning purposes, as it can help determine the risk of passing the condition on to future generations. Additionally, it can aid in genetic counseling, allowing individuals and families to make informed decisions about their health and reproductive choices.

It is important to note that genetic testing should be performed by a qualified healthcare professional who can interpret the results and provide appropriate counseling and guidance.

SKU: TEST-2612 Category:

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