Short Description

NGS genetic DNA test detecets for variant and mutation detection in TBXAS1 gene for Thromboxane synthase deficiency

PreTest 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

Detail Description

TBXAS1 Gene Thromboxane Synthase Deficiency NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Thromboxane synthase deficiency is a rare genetic condition caused by a mutation in the TBXAS1 gene. This gene provides instructions for making an enzyme called thromboxane synthase, which plays a vital role in blood clotting and platelet activation. Individuals with thromboxane synthase deficiency have a reduced ability to form blood clots, which can lead to excessive bleeding and bruising.

Symptoms of Thromboxane Synthase Deficiency

The symptoms of thromboxane synthase deficiency vary from person to person, but they usually include:

• Easy bruising
• Nosebleeds
• Heavy menstrual bleeding
• Bleeding gums
• Prolonged bleeding after injury or surgery
• Blood in the stool or urine

Some individuals with thromboxane synthase deficiency may not experience any symptoms at all.

Diagnosis of Thromboxane Synthase Deficiency

Thromboxane synthase deficiency can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a powerful tool that can analyze multiple genes at once and identify mutations that may be causing a particular condition. The TBXAS1 gene is one of the genes that can be analyzed through NGS.

To diagnose thromboxane synthase deficiency, a sample of DNA is collected from the patient, usually through a blood or saliva test. The sample is then sent to a laboratory for analysis. The results of the genetic test can confirm whether the patient has a mutation in the TBXAS1 gene and is therefore at risk for thromboxane synthase deficiency.

Cost of Thromboxane Synthase Deficiency NGS Genetic DNA Test

The cost of the thromboxane synthase deficiency NGS genetic DNA test can vary depending on the laboratory and location. In India, the cost of the test is typically around INR 20,000.

Conclusion

Thromboxane synthase deficiency is a rare genetic condition that can cause excessive bleeding and bruising. If you or someone you know is experiencing symptoms of thromboxane synthase deficiency, it is important to seek medical attention and consider genetic testing. The NGS genetic DNA test for thromboxane synthase deficiency can help diagnose the condition and provide insight into treatment options.

At DNA Labs India, we offer reliable and accurate genetic testing services for a wide range of conditions, including thromboxane synthase deficiency. Contact us today to learn more about our testing options and how we can help.