Test Price
2,800 AED✅ Home Collection Available
ATRX Gene Alpha-Thalassemia/Mental Retardation Syndrome Genetic Test | 2800 AED | Accredited by DHA
Executive Summary & Core Metrics
✅ 99.9% Diagnostic Sensitivity – ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
✅ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM–11 PM).
✅ Clinical Guidance: Complimentary Telephonic Post-Test Interpretation with a Genetic Counselor.
✅ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
This NGS-based test fully sequences the ATRX gene to identify pathogenic variants causing Alpha-Thalassemia/Mental Retardation Syndrome (ATR-X), a rare X-linked disorder characterized by severe intellectual disability, distinctive facial features, and hemoglobin H disease. Our DHA-licensed laboratory in Dubai Healthcare City ensures accurate diagnosis and supports multidisciplinary clinical management.
Test Overview & Methodology
The ATRX gene test employs next-generation sequencing (NGS) with copy number variant (CNV) analysis to achieve comprehensive coverage of all coding exons and flanking intronic regions. This method delivers >99% diagnostic yield for point mutations and exon-level CNVs.
| Feature | Our Test (NGS Full Gene Sequencing) | Alternative: Single-site PCR / MLPA |
|---|---|---|
| Methodology | NGS (Illumina) with CNV analysis | Targeted PCR for known mutations |
| Diagnostic Yield | >99% for point mutations and exon-level CNVs | 50–70% depending on variant spectrum |
| Turnaround Time | 3–4 Weeks | 2–4 Weeks |
| Coverage | All coding exons ± 20bp flanking introns | Limited to targeted region |
Physician Insight & Safety Protocols
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
"A positive ATRX result must be interpreted in conjunction with the patient's full phenotype, family history, and hematologic findings. Genetic counseling is essential to assess variant pathogenicity and guide surveillance for neurodevelopmental and hematologic complications."
Critical Safety Advisory
Do not discontinue any prescribed therapy or alter treatment without consulting your treating physician. This genetic test is intended for diagnostic and prognostic purposes and does not replace ongoing clinical management.
Exclusion Criteria & Emergency Red Flags
- Acute hemolytic crisis or severe anemia requiring immediate transfusion – stabilize before sampling.
- Home collection for minors without written legal guardian consent (in compliance with Federal Decree-Law No. 4 of 2016).
- Current high-dose anticoagulant use – coordinate with phlebotomy team for safe scheduling.
- Report to emergency department immediately if sudden confusion, respiratory distress, or unexplained bruising/bleeding occurs.
Patient FAQ & Clinical Guidance
1. What is the purpose of the ATRX gene NGS test, and how does it guide treatment?
This test sequences the entire ATRX gene to identify disease-causing variants, enabling confirmation of ATR-X syndrome diagnosis, initiating targeted surveillance for hematologic and neurological complications, and providing accurate genetic counseling for the family.
2. How long does it take to receive my ATRX genetic test result, and what does the report include?
Results are typically ready within 3–4 weeks. The comprehensive clinical report includes variant classification (pathogenic/likely pathogenic), zygosity, ICD-10 codes, and evidence-based recommendations for follow-up with a neurologist, hematologist, and clinical geneticist.
3. Is home blood collection available in Dubai and Abu Dhabi, and is it included in the 2800 AED fee?
Yes, our VIP mobile phlebotomy service covers all UAE emirates, including Dubai and Abu Dhabi, from 8 AM to 11 PM daily. The fee includes certified cold-chain transport; insurance billing can be verified directly via WhatsApp.
UAE Regulatory & Data Privacy Adherence
Compliance Framework:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – patient data confidentiality.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – secure digital health records.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – clinical safety and informed consent.
- ISO 9001:2015 certification (INT/EGQ/2509DA/3139) for quality management.
A mandatory pre-test genetic counseling session for pedigree analysis and family history review is required before sample collection. For appointment, contact +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | ATRX Gene Alpha-Thalassemia/Mental Retardation Syndrome Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Saliva (Oragene) |
| Methodology Used | Next-Generation Sequencing (NGS) with Copy Number Variant (CNV) Analysis |
| ICD-10-CM Code | Q87.8, D56.0, Z13.7 |
| LOINC Code | 81663-8 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians