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TPI1 Gene Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency Genetic Test Cost

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

-21%

The TPI1 gene is responsible for encoding the enzyme triosephosphate isomerase, which plays a critical role in glycolysis, the metabolic pathway that converts glucose into energy. Mutations in the TPI1 gene can lead to a rare but severe condition known as triosephosphate isomerase deficiency. This autosomal recessive disorder is characterized by a wide range of symptoms, including hemolytic anemia, neuromuscular impairments, and, in severe cases, early childhood death.

To diagnose this condition, genetic testing is conducted to identify mutations in the TPI1 gene. In the UAE, DNA Labs offers a specific test for this purpose. The test involves analyzing the patient’s DNA to detect any abnormalities in the TPI1 gene that could indicate the presence of triosephosphate isomerase deficiency. This genetic test is crucial for early diagnosis and management of the condition, allowing for appropriate treatment plans to be developed.

The cost of the TPI1 gene hemolytic anemia due to triosephosphate isomerase deficiency genetic test at DNA Labs UAE is 4400 AED. Given the complexity and the specialized nature of this test, it represents a significant investment in the health and well-being of individuals at risk of or suspected to have this rare genetic disorder. Early detection through such genetic testing can significantly impact the management of the disease and the quality of life for affected individuals and their families.

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TPI1 Gene Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency Genetic Test

Are you or a family member experiencing symptoms of hemolytic anemia? DNA Labs UAE offers the TPI1 Gene Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency Genetic Test to provide a comprehensive analysis of the TPI1 gene, which is responsible for encoding the enzyme triosephosphate isomerase (TPI).

Test Details

The TPI1 gene plays a crucial role in glycolysis, the process by which cells break down glucose to produce energy. However, mutations in the TPI1 gene can lead to a deficiency of the TPI enzyme, resulting in hemolytic anemia due to triosephosphate isomerase deficiency. Hemolytic anemia is characterized by the premature destruction of red blood cells, leading to a decreased number of circulating red blood cells and subsequent anemia.

NGS (Next-Generation Sequencing) genetic testing is used to analyze multiple genes simultaneously. In the case of TPI deficiency, NGS genetic testing can identify mutations in the TPI1 gene that may be responsible for the condition. By identifying specific mutations in the TPI1 gene, NGS genetic testing can provide a definitive diagnosis of hemolytic anemia due to triosephosphate isomerase deficiency.

Test Components and Price

The TPI1 Gene Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency Genetic Test is priced at 4400.0 AED. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.

Report Delivery and Method

After the sample is collected, the report will be delivered within 3 to 4 weeks. The test utilizes NGS technology, which is a highly advanced sequencing method for genetic analysis.

Referring Doctor and Test Department

The referring doctor for this test is a hematologist. The test is conducted in the Genetics department of DNA Labs UAE.

Pre Test Information

Before undergoing the TPI1 Gene Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency Genetic Test, it is recommended to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by TPI1 Gene Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency.

Understanding the genetic makeup of affected individuals and their families can provide valuable insights for appropriate treatment strategies and genetic counseling.

Test Name TPI1 Gene Hemolytic anemia due to triosephosphate isomerase deficiency 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 TPI1 Gene Hemolytic anemia due to triosephosphate isomerase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TPI1 Gene Hemolytic anemia due to triosephosphate isomerase deficiency NGS Genetic DNA Test gene TPI1
Test Details

The TPI1 gene is responsible for encoding the enzyme triosephosphate isomerase (TPI), which plays a crucial role in glycolysis, the process by which cells break down glucose to produce energy. Mutations in the TPI1 gene can lead to a deficiency of the TPI enzyme, resulting in a condition called hemolytic anemia due to triosephosphate isomerase deficiency.

Hemolytic anemia is a condition characterized by the premature destruction of red blood cells, leading to a decreased number of circulating red blood cells and subsequent anemia. In the case of TPI deficiency, the lack of functional TPI enzyme leads to the accumulation of toxic intermediates in red blood cells, causing their premature destruction.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to analyze multiple genes simultaneously. In the context of TPI deficiency, NGS genetic testing can be used to identify mutations in the TPI1 gene that may be responsible for the condition.

By identifying specific mutations in the TPI1 gene, NGS genetic testing can provide a definitive diagnosis of hemolytic anemia due to triosephosphate isomerase deficiency. This information can be important for determining appropriate treatment strategies and for providing genetic counseling to affected individuals and their families.

SKU: TEST-3908 Category:

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