TBXAS1 Gene Thromboxane Synthase Deficiency Genetic Test
Cost: AED 4400.0
Symptoms, Diagnosis, and Test Details
The TBXAS1 gene encodes for the enzyme thromboxane synthase, which is involved in the synthesis of thromboxane A2 (TXA2). TXA2 is a potent vasoconstrictor and platelet aggregator that plays a role in blood clotting and inflammation.
Thromboxane synthase deficiency is a rare genetic disorder characterized by a deficiency or dysfunction of the thromboxane synthase enzyme. This deficiency leads to reduced production of TXA2, resulting in impaired platelet aggregation and increased bleeding tendency.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. In the case of thromboxane synthase deficiency, NGS genetic testing can be used to identify mutations or variants in the TBXAS1 gene that may be responsible for the disorder.
NGS genetic testing can provide valuable information for diagnosis, prognosis, and treatment planning for individuals suspected of having thromboxane synthase deficiency. It can also be used for carrier testing and family planning purposes.
It is important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support.
Test Components
- Price: AED 4400.0
- 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 TBXAS1 Gene Thromboxane synthase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TBXAS1 Gene Thromboxane synthase deficiency NGS Genetic DNA Test gene TBXAS1.
Conclusion
The TBXAS1 Gene Thromboxane Synthase Deficiency Genetic Test offered by DNA Labs UAE is a valuable tool for diagnosing and managing thromboxane synthase deficiency. With its NGS technology and comprehensive analysis, it provides important information for treatment planning and family planning purposes. However, it is crucial to consult with a healthcare professional or genetic counselor for proper interpretation of results and guidance throughout the testing process.
| Test Name | TBXAS1 Gene Thromboxane synthase 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 TBXAS1 Gene Thromboxane synthase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TBXAS1 Gene Thromboxane synthase deficiency NGS Genetic DNA Test gene TBXAS1 |
| Test Details |
The TBXAS1 gene encodes for the enzyme thromboxane synthase, which is involved in the synthesis of thromboxane A2 (TXA2). TXA2 is a potent vasoconstrictor and platelet aggregator that plays a role in blood clotting and inflammation. Thromboxane synthase deficiency is a rare genetic disorder characterized by a deficiency or dysfunction of the thromboxane synthase enzyme. This deficiency leads to reduced production of TXA2, resulting in impaired platelet aggregation and increased bleeding tendency. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. In the case of thromboxane synthase deficiency, NGS genetic testing can be used to identify mutations or variants in the TBXAS1 gene that may be responsible for the disorder. NGS genetic testing can provide valuable information for diagnosis, prognosis, and treatment planning for individuals suspected of having thromboxane synthase deficiency. It can also be used for carrier testing and family planning purposes. It is important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support. |
