PKLR Gene Adenosine triphosphate elevated of erythrocytes Genetic Test
At DNA Labs UAE, we offer the PKLR Gene Adenosine triphosphate elevated of erythrocytes Genetic Test. This test helps in diagnosing and understanding the symptoms associated with pyruvate kinase deficiency (PKD).
Test Components and Price
Test Name: PKLR Gene Adenosine triphosphate elevated of erythrocytes Genetic Test
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
Hematology
Doctor
Hematologist
Test Department
Genetics
Pre Test Information
Clinical History of Patient who is going for PKLR Gene Adenosine triphosphate elevated of erythrocytes NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PKLR Gene Adenosine triphosphate elevated of erythrocytes NGS Genetic DNA Test gene PKLR
Test Details
The PKLR gene is responsible for encoding the pyruvate kinase enzyme, which plays a crucial role in the glycolysis pathway, converting glucose into energy in the form of adenosine triphosphate (ATP) in red blood cells (erythrocytes). Mutations in the PKLR gene can lead to a deficiency or dysfunction of pyruvate kinase, resulting in a condition known as pyruvate kinase deficiency (PKD).
Adenosine triphosphate (ATP) is an essential molecule for cellular energy production and various cellular processes. In individuals with PKD, the production of ATP in red blood cells is impaired, leading to reduced energy availability and increased breakdown of red blood cells (hemolysis). As a result, affected individuals may experience symptoms such as anemia, jaundice, fatigue, and enlargement of the spleen.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of the PKLR gene. This type of genetic testing can identify specific mutations or variations in the PKLR gene that may be associated with pyruvate kinase deficiency. By detecting these genetic abnormalities, NGS testing can help confirm a diagnosis of PKD and provide valuable information for disease management and genetic counseling.
Elevated levels of adenosine triphosphate (ATP) in erythrocytes may be observed in individuals with pyruvate kinase deficiency due to the impaired glycolysis pathway. This elevation in ATP levels can be a characteristic laboratory finding in individuals with PKD, along with other diagnostic tests such as measurement of pyruvate kinase enzyme activity and genetic testing.
It is important to consult with a healthcare professional or genetic counselor for a comprehensive evaluation and interpretation of genetic test results. They can provide further information about the significance of elevated ATP levels and guide appropriate management strategies for individuals with suspected or confirmed pyruvate kinase deficiency.
| Test Name | PKLR Gene Adenosine triphosphate elevated of erythrocytes 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 | Hematology |
| Doctor | Hematologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for PKLR Gene Adenosine triphosphate, elevated, of erythrocytes NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PKLR Gene Adenosine triphosphate, elevated, of erythrocytes NGS Genetic DNA Test gene PKLR |
| Test Details |
The PKLR gene is responsible for encoding the pyruvate kinase enzyme, which plays a crucial role in the glycolysis pathway, converting glucose into energy in the form of adenosine triphosphate (ATP) in red blood cells (erythrocytes). Mutations in the PKLR gene can lead to a deficiency or dysfunction of pyruvate kinase, resulting in a condition known as pyruvate kinase deficiency (PKD). Adenosine triphosphate (ATP) is an essential molecule for cellular energy production and various cellular processes. In individuals with PKD, the production of ATP in red blood cells is impaired, leading to reduced energy availability and increased breakdown of red blood cells (hemolysis). As a result, affected individuals may experience symptoms such as anemia, jaundice, fatigue, and enlargement of the spleen. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of the PKLR gene. This type of genetic testing can identify specific mutations or variations in the PKLR gene that may be associated with pyruvate kinase deficiency. By detecting these genetic abnormalities, NGS testing can help confirm a diagnosis of PKD and provide valuable information for disease management and genetic counseling. Elevated levels of adenosine triphosphate (ATP) in erythrocytes may be observed in individuals with pyruvate kinase deficiency due to the impaired glycolysis pathway. This elevation in ATP levels can be a characteristic laboratory finding in individuals with PKD, along with other diagnostic tests such as measurement of pyruvate kinase enzyme activity and genetic testing. It is important to consult with a healthcare professional or genetic counselor for a comprehensive evaluation and interpretation of genetic test results. They can provide further information about the significance of elevated ATP levels and guide appropriate management strategies for individuals with suspected or confirmed pyruvate kinase deficiency. |
