Test Price
2,800 AED✅ Home Collection Available
TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Precision Genetic Diagnosis for Diamond-Blackfan Anemia with Craniofacial Involvement
This advanced NGS-based test provides 99.9% diagnostic sensitivity for pathogenic variants in the TSR2 gene, enabling accurate classification of Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis. It adheres to DHA laboratory licensing standards, 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.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed genetic specialists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This genetic test utilizes Illumina NovaSeq next-generation sequencing (NGS) to analyze the entire TSR2 gene coding region and splice sites, including copy number variant detection. It identifies single nucleotide variants, small insertions/deletions, and large structural rearrangements associated with Diamond-Blackfan anemia type 14 and mandibulofacial dysostosis. Our methodology ensures comprehensive molecular characterization compared to traditional Sanger sequencing.
| Feature | Our Test – TSR2 NGS | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Methodology | Illumina NovaSeq NGS, full gene sequencing + copy number analysis | Capillary Sanger sequencing, limited to point mutations |
| Diagnostic Sensitivity | 99.9% for single nucleotide variants & indels; large deletion/duplication detection included | ~95% for point mutations; cannot detect whole-exon deletions |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Price | 2800 AED | ~3500 AED (estimated) |
| UAE Regulatory Compliance | DHA Lab License, ISO 9001:2015, compliant with PDPL & Federal Law No. 2 of 2019 | Often not certified to UAE/DHA standards |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Genetics, I emphasize that this test provides definitive molecular confirmation of Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis. However, results must be interpreted within the full clinical context, including hematological parameters and craniofacial assessment. Genetic counseling is essential before and after testing to guide family planning and multidisciplinary care.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
⚠ Do not discontinue or modify prescribed medications without consulting your doctor. Genetic results may inform therapy adjustments, but abrupt changes can be harmful.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria: This test is not a substitute for urgent medical care. Do not delay emergency treatment to await results. Not recommended for asymptomatic minors without parental consent and formal genetic counseling, in compliance with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
ER Red Flags: Seek immediate emergency care if you experience severe shortness of breath, chest pain, fainting, or extreme pallor indicative of acute hemolytic crisis or bone marrow failure decompensation.
Patient FAQ & Clinical Guidance
1. What does a positive TSR2 gene result mean for me or my child?
A positive result confirms a diagnosis of Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis, requiring multidisciplinary management. This means you or your child carries a disease-causing variant in the TSR2 gene, which explains the bone marrow failure and craniofacial features. Early intervention with hematology, genetics, and craniofacial specialists is essential to optimize outcomes.
2. How long until I receive my results and who interprets them?
Your definitive NGS report is issued within 3 to 4 weeks and includes a telephonic clinical interpretation by a DHA-licensed genetic specialist. The report highlights pathogenic variants, carrier implications, and clinical correlation notes, ensuring you and your referring physician can act swiftly.
3. Is this test covered by my UAE health insurance?
Many UAE insurance plans now reimburse medically indicated genetic testing when pre-authorized; we offer direct billing verification via WhatsApp at +971 54 548 8731. Send your policy details and our team confirms coverage and co-pay obligations within 2 hours, supporting a hassle-free experience.
4. What sample is required and how is it collected?
Accepted samples include whole blood (EDTA), extracted DNA, or one drop of blood on an FTA card. Our VIP Mobile Phlebotomy service (8 am to 11 pm daily) provides temperature-controlled transport directly to our DHA-accredited laboratory. Alternatively, you may visit our facility in Dubai Healthcare City for in-person collection.
UAE Regulatory & Data Privacy Adherence
Data Protection & Legal Compliance
This test operates 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. Patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is encrypted, access-controlled, and stored within UAE servers. The laboratory holds DHA Facility License No. 1143 and is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis Genetic Test |
| Price (AED) | 2800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next-Generation Sequencing (Illumina NovaSeq) with CNV analysis |
| ICD-10-CM Code | D61.0 (Constitutional aplastic anemia), Q87.0 (Congenital malformation syndromes) |
| LOINC Code | 94857-8 (Gene targeted mutation analysis, TSR2) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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