Test Price
2,800 AED✅ Home Collection Available
ATRX Gene Sequencing (NGS) for Alpha-Thalassemia/Mental Retardation Syndrome in UAE
Executive Summary & Core Metrics
Diagnostic Precision
99.9% Diagnostic Sensitivity via ISO 15189-accredited NGS processing and dual-strand confirmation.
Premium Logistics
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
Post-Test Clinical Guidance
Telephonic result interpretation with a DHA-licensed genetic counsellor within 48 hours of report release.
Insurance & Payment
Direct Billing Verification via WhatsApp +971 54 548 8731. All major UAE insurers accepted.
Test Overview & Methodology
The ATRX gene sequencing test detects pathogenic variants in the ATRX gene that cause X-linked alpha-thalassemia/mental retardation syndrome (ATR-X syndrome), characterised by severe intellectual disability, distinctive facial features, urogenital anomalies, and HbH disease. This NGS assay sequences the entire coding region and intron-exon boundaries, providing a definitive molecular diagnosis and enabling tailored haematological and neurodevelopmental management.
| Feature | Our Test (NGS) | Sanger Sequencing (Alternative) |
|---|---|---|
| Diagnostic Yield | >99.9% of all coding variants, including large indels detected by coverage analysis | ~80% (misses deep intronic variants and large deletions) |
| Turnaround Time | 3–4 weeks | 6–8 weeks (multi-amplicon) |
| Method | Targeted NGS on Illumina NovaSeq 6000, aligned to GRCh38, analysed with ISO-validated bioinformatics pipeline | Capillary electrophoresis, manual variant calling |
| Regulatory Compliance | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139), Federal Decree-Law No. 45 of 2021 (PDPL), Federal Law No. 2 of 2019 | Variable |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics with DHA, I confirm that ATRX gene sequencing is the gold standard for diagnosing ATR-X syndrome. Results must be interpreted alongside clinical haematological and neurodevelopmental assessments. A variant of uncertain significance requires expert genetic counselling and family segregation studies.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA: 9294403
⚠️ Advisory: Medication & Safety
Do not discontinue prescribed medications without consulting your doctor. This test does not replace urgent medical care.
⚠️ Exclusion Criteria
- Patients with active haemolysis requiring urgent transfusion
- Inability to provide informed consent for genetic testing under UAE law
- Haemolysed, clotted, or grossly contaminated samples; insufficient DNA quantity (<50 ng/μL)
Emergency Red Flags: Severe pallor, acute respiratory distress, seizures, or loss of consciousness – seek immediate medical attention.
Patient FAQ & Clinical Guidance
1. What sample types are accepted for the ATRX gene test?
We accept whole blood (3–5 mL in EDTA), extracted DNA, or a single drop of blood blotted on an FTA card, all transported under cold-chain conditions to preserve nucleic acid integrity.
2. How should I prepare for the home collection service?
No fasting is required; simply hydrate well and provide your Emirates ID. Our phlebotomist will bring all necessary equipment, including the ISO-validated cold-chain vaccine carrier.
3. What is the diagnostic accuracy of this NGS test for ATR-X syndrome?
With >99.9% analytical sensitivity for single-nucleotide variants and copy-number changes, this identifies all known pathogenic ATRX mutations reported in ClinVar and the Human Gene Mutation Database.
UAE Regulatory & Data Privacy Adherence
Legal & Regulatory Compliance
This test is performed 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 data is encrypted and handled with strict confidentiality.
Contact for inquiries: +971 54 548 8731
Clinical & Logistical Metadata
| Test Name | ATRX Gene Sequencing (NGS) for Alpha-Thalassemia/Mental Retardation Syndrome |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (3–5 mL in EDTA), extracted DNA, or FTA card |
| Methodology Used | Targeted NGS on Illumina NovaSeq 6000, alignment to GRCh38, ISO-validated bioinformatics pipeline |
| ICD-10-CM Code | Q87.0 (Alpha-thalassemia/mental retardation syndrome) |
| LOINC Code | 84410-0 (ATRX gene mutations identified by sequencing) |
| 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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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians