Test Price
2,800 AED✅ Home Collection Available
TBXAS1 Gene Ghosal Hematodiaphyseal Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
This advanced genetic test provides definitive molecular diagnosis for Ghosal Hematodiaphyseal Syndrome with 99.9% diagnostic sensitivity via ISO 9001:2015 certified processing. Our integrated service includes:
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain, VIP Mobile Phlebotomy (8 AM – 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731 (same as support).
Test Overview & Methodology
This Next-Generation Sequencing (NGS) genetic test analyses the full coding region of the TBXAS1 gene to identify pathogenic variants underlying Ghosal Hematodiaphyseal Syndrome (GHDD), a rare osteodysplastic condition with anemia, dermatological, and immunological manifestations. All clinically significant variants are confirmed by Sanger sequencing to ensure 99.9% accuracy.
| Feature | Our TBXAS1 NGS Test | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Analytical Sensitivity | 99.9% (Single gene, deep coverage) | ~98% (Variable coverage across genes) |
| Methodology | NGS with Sanger confirmation of all variants | Exome capture + NGS |
| Turnaround Time | 3–4 Weeks | 8–12 Weeks |
| Interpretation Focus | Only clinically actionable TBXAS1 variants per ACMG guidelines | All genes, incidental findings possible |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
“As a clinical geneticist, I emphasize that this targeted NGS test provides a definitive molecular diagnosis for Ghosal Hematodiaphyseal Syndrome. However, genetic results must be interpreted within the complete clinical picture, including family history and physical findings. Our team ensures every report is accompanied by telephonic guidance, and I strongly recommend completing both pre- and post-test genetic counseling.”
Medication Advisory
⚠️ Do not discontinue any prescribed medication without consulting your treating physician. This test does not replace ongoing clinical management.
Exclusion Criteria & Emergency Red Flags
- Not for asymptomatic minors without valid consent from a legal guardian (UAE Federal Law).
- Recent blood transfusion (<4 weeks) may cause chimerism and false negative/positive results.
- Inadequate sample — whole blood must be collected in EDTA tubes; dried blood spot (FTA card) can be used if immediate processing is not possible.
- Seek emergency care immediately if you experience: sudden severe bone pain, spontaneous fracture, severe pallor or fainting — do not wait for genetic test results.
Patient FAQ & Clinical Guidance
1. What is the TBXAS1 gene test?
The TBXAS1 gene test detects mutations linked to Ghosal hematodiaphyseal syndrome causing bone marrow and skin anomalies. It uses Next-Generation Sequencing to analyse your DNA for disease-causing variants, providing a definitive diagnosis when clinical features are present and guiding family screening and management.
2. How should I prepare?
No fasting is required, but you must provide a detailed family history during the mandatory pre- genetic counselling session. Our phlebotomist will collect a small blood sample (EDTA whole blood) or a dried blood spot on an FTA card; the genetic counsellor will draw a pedigree chart to assess inheritance.
3. What do positive/negative results mean?
A positive result confirms a disease-causing mutation, but a negative result does not fully rule out the syndrome due to possible deep intronic or copy number variants. Your report will be interpreted alongside your clinical picture; a negative finding may require additional studies like bone marrow biopsy in consultation with your specialist.
UAE Regulatory & Data Privacy Adherence
All genetic testing services comply 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. Patient consent, data confidentiality, and secure handling of genetic information are strictly enforced. Our laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | TBXAS1 Gene (Ghosal Hematodiaphyseal Syndrome) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | Q78.8 |
| LOINC Code | 91898-8 |
| DHA Facility License & Laboratory Address | DHA License: 1143; Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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