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Test Price

2,800 AED

✅ Home Collection Available

TRNT1 Gene Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Genetic Test in UAE – 2,800 AED

Executive Summary & Core Metrics

Executive Summary:
• Diagnostic Sensitivity: >99.9% via ISO 9001:2015 accredited processing (Certificate INT/EGQ/2509DA/3139).
• Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection, available daily from 8 AM to 11 PM.
• Post-Test Guidance: Telephonic clinical consultation to interpret results and support personalized care.
• Insurance: Direct coverage verification via WhatsApp at +971545488731.

Test Overview & Methodology

The TRNT1 gene NGS test identifies pathogenic variants linked to a rare inherited multi‑system syndrome encompassing sideroblastic anemia, B‑cell immunodeficiency, periodic fevers, and developmental delay. Proper diagnosis guides targeted hematological and immunological management, and is performed with the highest clinical precision under DHA‑accredited laboratory standards.

Feature Our TRNT1 NGS Test Closest Alternative (Single‑Gene Sanger)
TechnologyNext‑Generation Sequencing (NGS)Sanger sequencing of exons only
Sensitivity>99.9% (deep coverage, CNV detection)~98% (misses large deletions/insertions)
Turnaround Time3–4 Weeks6–8 Weeks
Regulatory ComplianceDHA/MOHAP, ISO 9001:2015, UAE PDPLMay lack local accreditation
Sample TypesWhole Blood, Extracted DNA, FTA Card (one drop of blood)Whole Blood only

Physician Insight & Safety Protocols

From Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403):
“As a clinical geneticist, I recognise the complexity of diagnosing syndromes that combine haematological, immunological, and developmental features. The TRNT1 NGS panel is a powerful diagnostic tool, but it must always be interpreted alongside a thorough family history and clinical examination. This test not only confirms a diagnosis but also opens the door to tailored management and genetic counselling for the entire family.”

Medication Advisory

⚠️ Do not discontinue any prescribed medication (including iron chelators, immunoglobulins, or anti‑inflammatory drugs) without consulting your doctor. Abrupt changes can provoke severe anemia or infection crises.

Exclusion Criteria & Emergency Red Flags

  • Inability to provide a blood sample or FTA card (e.g., severe bleeding disorder where venipuncture is contraindicated).
  • Acute febrile illness requiring emergency stabilisation prior to elective genetic testing.
  • Minors under 18 years must have legal guardian consent as per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.

🚨 Seek immediate emergency care if you experience: severe pallor/shortness of breath, altered consciousness, chest pain, or uncontrolled fever >40°C while awaiting results.

Patient FAQ & Clinical Guidance

1. What is the TRNT1 Gene Sideroblastic Anemia NGS Test?

This advanced genetic test screens the entire TRNT1 gene using next‑generation sequencing to detect mutations causing sideroblastic anemia with B‑cell immunodeficiency, periodic fevers, and developmental delay. It provides the highest diagnostic sensitivity (>99.9%) and is performed in an ISO‑accredited laboratory under UAE healthcare regulations.

2. How should I prepare for the TRNT1 genetic test?

No special preparation is required—you may eat and drink normally. A genetic counselling session is mandatory before the test to construct a detailed family pedigree and discuss implications. A small blood sample (or DNA from an FTA card) will be collected by our mobile phlebotomy team at your doorstep, available daily from 8 AM to 11 PM.

3. What do the results mean and what happens next?

A pathogenic (positive) result confirms the genetic diagnosis and guides tailored treatment plans, including haematopoietic support, immunoglobulin replacement, and fever management. A negative result may rule out TRNT1‑related disease, but further evaluation may be needed. Our post‑test telephonic clinical guidance session helps you interpret the findings and plan follow‑up care.

UAE Regulatory & Data Privacy Adherence

Data Protection and Healthcare Compliance

This test is performed under the regulatory oversight of the Dubai Health Authority (DHA Facility License No. 1143) and complies with the UAE Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for the secure handling of your genetic and medical information. Additionally, the use of information and communication technology in health fields adheres to Federal Law No. 2 of 2019. All clinical procedures follow the standards set by Federal Decree-Law No. 4 of 2016 on Medical Liability.

Clinical & Logistical Metadata

Test Name TRNT1 Gene Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Whole Blood, Extracted DNA, FTA Card – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM–11 PM)
Methodology Used Next-Generation Sequencing (NGS) with CNV detection
ICD-10-CM Code D64.0, D81.4, R50.9, F80.9
LOINC Code 92891-0
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

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ISO Accredited

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All reports reviewed by DHA-Certified physicians