TBXAS1 Gene Thromboxane synthase deficiency NGS Genetic Test
Short Name: TBXAS1 Gene Thromboxane Synthase Deficiency Test
Also known as: TBXAS1 deficiency, Thromboxane A2 synthase deficiency, Congenital thromboxane synthase deficiency
TBXAS1 Gene Thromboxane synthase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the TBXAS1 Gene Thromboxane Synthase Deficiency NGS Genetic Test is to identify mutations in the TBXAS1 gene that cause thromboxane synthase deficiency. This test aids in accurate diagnosis, guides treatment decisions, facilitates genetic counseling, and helps assess risk for family members.
- Test Code
- 2701
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation is required. Provide detailed clinical history and family pedigree during genetic counseling. Ensure proper identification and consent.
Method: Venipuncture for blood sample or FTA card collection
Laboratory Analysis
A trained phlebotomist will collect a blood sample via venipuncture or use an FTA card for one drop of blood. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store the sample as instructed and transport to the laboratory promptly.
Timeline: Results are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the TBXAS1 Gene Thromboxane Synthase Deficiency NGS Genetic Test is to identify mutations in the TBXAS1 gene that cause thromboxane synthase deficiency. This test aids in accurate diagnosis, guides treatment decisions, facilitates genetic counseling, and helps assess risk for family members.
How to Prepare
- Verify patient identity and test order
- Use sterile equipment for blood collection
- For FTA card, ensure one drop of blood is applied correctly
- Label samples accurately with patient details
- Transport samples at ambient temperature unless specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for thromboxane synthase deficiency is essential for accurate diagnosis and management, particularly in patients with unexplained bleeding disorders or family history. Early detection can guide treatment and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrectly labeled or unlabeled samples
- Contaminated samples
Understanding Your Results
Positive: Pathogenic variant detected
Confirms diagnosis of thromboxane synthase deficiency. Genetic counseling and management plan recommended.
Negative: No pathogenic variants detected
No mutations found in the TBXAS1 gene. Symptoms may be due to other causes; further evaluation may be needed.
Variant of Uncertain Significance (VUS)
A genetic variant was identified but its clinical significance is unknown. Repeat testing or family studies may be advised.
Consult a doctor if you experience symptoms of bleeding disorders, such as unexplained bruising or prolonged bleeding, or if there is a family history of thromboxane synthase deficiency. Genetic counseling is recommended before and after testing.
Limitations
- ⚠May not detect all mutation types, such as large deletions or deep intronic variants
- ⚠Results require clinical correlation and genetic counseling
- ⚠Does not assess other genes involved in bleeding disorders
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain or bruising
- ●No significant risks associated with genetic testing itself
Interfering Factors
- ●Sample contamination during collection or handling
- ●Degraded DNA due to improper storage
- ●Recent blood transfusions may affect results
Compare With Similar Tests
| Test | TBXAS1 Gene Thromboxane synthase deficiency NGS Genetic Test | Complete Blood Count (CBC) | Platelet Function Tests | Coagulation Profile |
|---|---|---|---|---|
| Comparison | TBXAS1 Gene Thromboxane synthase deficiency NGS Genetic Test | CBC assesses overall blood cell counts but does not identify genetic causes like TBXAS1 mutations. | These tests evaluate platelet activity but may not detect specific genetic deficiencies. | Measures clotting factors but does not analyze genetic mutations in TBXAS1. |
Frequently Asked Questions
What is thromboxane synthase deficiency?
What are the symptoms of thromboxane synthase deficiency?
How is thromboxane synthase deficiency diagnosed?
What is the cost of the TBXAS1 Gene NGS Genetic Test?
How is the sample collected for this test?
Is fasting required before the test?
How long does it take to get results?
What does a positive result mean?
Can this test be done for children?
Is home sample collection available?
What should I do if I have a family history of bleeding disorders?
Are there any risks associated with this test?
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