Test Price
2,800 AED✅ Home Collection Available
TBXAS1 Gene Thromboxane Synthase Deficiency Genetic Test in UAE – 2,800 AED
Executive Summary & Core Metrics
This next-generation sequencing (NGS) test detects pathogenic variants in the TBXAS1 gene causing thromboxane synthase deficiency, a rare autosomal recessive platelet disorder characterized by bleeding tendencies. The test provides definitive genetic diagnosis with 99.9% analytical sensitivity and specificity.
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015–Certified Processing.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
Clinical Guidance: Complimentary Telephonic Post-Test Interpretation by a DHA-licensed Consultant Medical Geneticist.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
Thromboxane synthase deficiency (MIM #274180) is caused by biallelic mutations in the TBXAS1 gene. The enzyme catalyzes the conversion of prostaglandin H₂ to thromboxane A₂, a critical platelet aggregator. Our test utilizes Illumina-based next-generation sequencing covering all coding exons and flanking intronic regions, followed by Sanger confirmation of clinically significant variants. Analytical sensitivity and specificity exceed 99.9% for single nucleotide variants and small insertions/deletions.
| Parameter | Our Test (NGS) | Closest Alternative (Platelet Aggregometry) |
|---|---|---|
| Precision | 99.9% analytical sensitivity & specificity | 60–70% sensitivity; functional, not genetic |
| Method | Illumina‑based Next‑Generation Sequencing + Sanger validation | Light transmission aggregometry |
| Speed | 21–28 Days (comprehensive molecular report) | 1–2 days (partial functional data only) |
Physician Insight & Safety Protocols
“A positive TBXAS1 result clarifies the etiology of a lifelong bleeding tendency and empowers families with genetic diagnosis. I strongly recommend correlating this result with a thorough physical examination, complete blood count, and platelet function studies before initiating therapy. If new or worsening bleeding occurs, immediate emergency evaluation is required.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Safety Advisory & Exclusion Criteria
Do not discontinue any prescribed medication without consulting your doctor. Abrupt cessation of anti‑bleeding agents or anticoagulants can be life‑threatening.
Exclusion Criteria for Sample Collection:
- Active major bleeding or hemodynamic instability
- Severe thrombocytopenia (platelets <20,000/μL) unless cleared by a hematologist
- Inability to provide informed consent or refusal of genetic counseling
Emergency Red Flags:
- Sudden severe headache, vision changes, or altered consciousness (rule out intracranial bleed)
- Uncontrollable bleeding from gums, nose, or gastrointestinal tract
- Spontaneous joint or muscle swelling after minimal trauma
Patient FAQ & Clinical Guidance
1. What is the TBXAS1 gene and how does its deficiency cause bleeding?
The TBXAS1 gene provides instructions for producing thromboxane synthase, an enzyme that converts prostaglandin H₂ to thromboxane A₂. Thromboxane A₂ is essential for platelet aggregation and vasoconstriction after vascular injury. Deficiency results from biallelic pathogenic variants, leading to impaired platelet clumping and a bleeding diathesis. This test identifies those variants to confirm the diagnosis.
2. Is genetic counseling required before this test?
Yes, a mandatory genetic counseling session is required prior to sample collection. During this session, a board‑certified genetic counselor will construct a pedigree, discuss inheritance patterns (autosomal recessive), explain the test’s scope and limitations, and obtain informed consent. Family history of bleeding disorders or consanguinity will be reviewed to guide variant interpretation.
3. How do I prepare for blood collection, and can it be done at home?
No special preparation such as fasting is needed. Avoid strenuous exercise for 24 hours before collection. Our VIP mobile phlebotomy service is available daily from 8 AM to 11 PM for home collection. A single whole blood sample in an EDTA tube or a dried blood spot on an FTA card is sufficient. The sample is transported under temperature‑controlled conditions to our ISO‑certified laboratory.
4. How long does it take to get the results, and how are they delivered?
The turnaround time is 21 to 28 days from sample receipt. A comprehensive molecular report is delivered via a secure encrypted online portal. You will also receive a complimentary telephonic consultation with the reporting geneticist to discuss the findings and their clinical significance.
5. Does this test detect all possible bleeding disorders?
No. This test is specific to TBXAS1 mutations causing thromboxane synthase deficiency. It does not evaluate other genes associated with platelet function disorders, coagulation factor deficiencies, or von Willebrand disease. Your clinician may recommend additional testing based on the overall phenotype and family history.
UAE Regulatory & Data Privacy Adherence
Data Protection: This genetic test is processed in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Genetic data is treated as sensitive health information and is encrypted in transit and at rest.
Medical Liability & Consent: All clinical procedures and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. You have the right to withdraw consent at any stage, request deletion of genetic data, and access your test results.
Accreditations: DHA Facility License: 1143 | ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). Our laboratory participates in external quality assessment schemes for NGS genetic testing.
Clinical & Logistical Metadata
| Test Name | TBXAS1 Gene Thromboxane Synthase Deficiency Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 21–28 Days (3–4 Weeks) |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) + Sanger Validation |
| ICD-10-CM Code | D69.1 (Qualitative platelet defect) |
| LOINC Code | 94465-9 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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