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. |
