Test Price
2,800 AED✅ Home Collection Available
TSR2 Gene Sequencing for Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Summary
This test provides comprehensive genetic analysis of the TSR2 gene associated with Diamond-Blackfan anemia type 14 and mandibulofacial dysostosis using advanced next-generation sequencing (NGS) technology.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified 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: Complimentary Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
Our NGS-based TSR2 gene sequencing test precisely detects pathogenic variants associated with Diamond-Blackfan anemia type 14 and mandibulofacial dysostosis, empowering accurate diagnosis and family planning.
| Feature | Our TSR2 NGS Test | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Precision | >99.9% analytical sensitivity for TSR2 coding region | ~98% for individual exons |
| Method | Next Generation Sequencing (Illumina) with full bioinformatics | Capillary electrophoresis (single exon focus) |
| Turnaround Time | 3–4 Weeks (express possible) | 6–8 Weeks |
| Coverage | Entire TSR2 gene including deep intronic regions | Limited to requested exons |
Physician Insight & Safety Protocols
A Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403): “Navigating a suspected rare genetic disorder can be overwhelming for families. Our TSR2 gene analysis delivers precise molecular data, yet the human context—your child’s growth, craniofacial features, and hematological status—remains paramount. I strongly recommend that all results be interpreted in conjunction with a specialized geneticist to guide personalized care.”
Safety Advisory
Precautions
Emergency Red Flags: Seek immediate medical care if the patient develops sudden pallor, shortness of breath, chest pain, bleeding, or signs of infection (fever >38.5°C). This test is not a substitute for emergency evaluation.
Medication Warning: Do not discontinue any prescribed medication without consulting your doctor. This test requires no modification of current therapy unless instructed by your physician.
Exclusion Criteria
None applicable to DNA collection. However, if the patient is experiencing an acute hemolytic crisis with severe anemia or unstable vital signs, delay sample collection until stabilized.
Patient FAQ & Clinical Guidance
1. What is the TSR2 gene test used for?
This NGS test identifies mutations in the TSR2 gene causing Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis for accurate diagnosis and genetic counseling.
2. How is the sample collected and what is the turnaround time?
A simple blood draw or DNA sample is collected at home by a certified phlebotomist, with results in 3-4 weeks.
3. Does insurance cover this genetic test in the UAE?
We assist with direct billing verification via WhatsApp and collaborate with major insurers for pre-authorization assessment in the UAE.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
This laboratory test adheres to the following UAE legal frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL)
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields
- Federal Decree-Law No. 4 of 2016 on Medical Liability
ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139)
Clinical & Logistical Metadata
| Test Name | TSR2 Gene Sequencing for Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral blood (5–10 mL) in EDTA tube or extracted DNA |
| Methodology Used | Next Generation Sequencing (NGS) – Illumina |
| ICD-10-CM Code | D61.01, Q75.4 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians