Test Price
2,800 AED✅ Home Collection Available
ATRX Gene (X‑Linked Intellectual Disability with Hypotonic Facies Syndrome) Genetic Test in UAE | 2800 AED | DHA‑Licensed Molecular Diagnostics
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection, available daily 8 AM–11 PM.
- Clinical Guidance: Complimentary telephonic post‑test consultation with a DHA‑licensed consultant medical geneticist for results interpretation.
- Insurance & Billing: Direct insurance billing verification via +971 54 548 8731 (WhatsApp).
Test Overview & Methodology
This advanced next‑generation sequencing test deciphers the entire coding region of the ATRX gene to diagnose X‑linked intellectual disability with hypotonic facies – a neurodevelopmental disorder often accompanied by alpha‑thalassemia and distinctive facial features. The test uses a single peripheral blood sample or dried blood spot, delivering a definitive molecular diagnosis in 3–4 weeks.
Methodological Precision at a Glance
| Feature | Our ATRX NGS Test | Closest Alternative (Sanger Sequencing / CMA) |
|---|---|---|
| Precision | Full gene sequencing with variant‑level resolution (SNVs, indels, CNVs) | Single‑exon sequencing; may miss deep intronic variants or large deletions |
| Method | NGS (Illumina® NovaSeq) with bioinformatic annotation against ClinVar & HGMD | Conventional capillary sequencing or chromosomal microarray (no gene‑level detail) |
| Turnaround | 3–4 weeks | Up to 8 weeks for targeted Sanger panels |
| Diagnostic Yield | >95% for known pathogenic variants | ~70% for specific point mutations only |
| Regulatory Compliance | ISO 9001:2015, UAE PDPL, DHA‑licensed reporting | Varies by provider |
Physician Insight & Safety Protocols
“A molecular diagnosis for ATRX‑related disorder is a cornerstone for targeted neurodevelopmental care. This test empowers families with definitive answers, but it must be contextualized within a full clinical genetics evaluation and multidisciplinary support. We offer post‑result counseling to guide every medical decision.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Safety & Exclusion Criteria
- Not for prenatal diagnosis using blood alone; amniocentesis or CVS is required for fetal testing.
- Avoid sample collection within 2 weeks of a blood transfusion, as donor DNA can confound results.
- Post‑bone marrow transplant patients: the test may detect donor genotype; pre‑transplant DNA is preferred.
- Do not discontinue any prescribed medication without consulting your doctor – this test does not replace clinical monitoring.
Emergency Red Flags After Result Disclosure
- If the patient or caregiver experiences severe emotional distress, suicidal ideation, or acute anxiety, seek immediate psychiatric care at the nearest UAE emergency department.
- For any ambiguous variant, a follow‑up clinical genetics consultation is mandatory before any medical decision.
Patient FAQ & Clinical Guidance
1. What exactly does the ATRX NGS test detect?
Summary: It detects all pathogenic single‑nucleotide variants, indels, and copy‑number changes across the entire ATRX gene, confirming X‑linked intellectual disability with hypotonic facies syndrome.
The test examines every exon and intron‑exon boundary using Next‑Generation Sequencing technology, then cross‑references findings against ClinVar, the Human Gene Mutation Database, and internal ISO‑validated variant classification protocols. A positive result gives families a precise molecular diagnosis, paving the way for targeted neurodevelopmental therapies and informed genetic counselling for future pregnancies.
2. How is the sample collected, and does it require fasting?
Summary: A home‑collection nurse draws 4 mL of blood into an EDTA tube or collects a finger‑prick dried blood spot – no fasting needed, and the sample is stable in ISO‑certified cold‑chain transport.
Our team arrives at your home or office wearing full PPE and follows strict DHA‑licensed phlebotomy protocols. For infants or patients with difficult veins, the FTA card (dried blood spot) option is painless and equally reliable. The sample is immediately sealed in a temperature‑controlled container and processed within 24 hours at our Dubai central lab.
3. If my child’s result is positive, what does that mean for siblings?
Summary: Because this is an X‑linked condition, a positive result triggers carrier testing in the mother and predictive testing for at‑risk male siblings, clarifying recurrence risk for future pregnancies.
After receiving the result, a complementary tele‑genetics session with our clinical geneticist will explain inheritance patterns and arrange cascade screening. For families, this means early intervention for affected siblings, and for parents, informed reproductive options. All data handling respects UAE PDPL and Federal Law No. 2 of 2019 on health ICT, ensuring complete confidentiality.
UAE Regulatory & Data Privacy Adherence
All clinical data, genetic results, and personal health information are processed and stored 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 for genetic testing is obtained and recorded in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability. Our laboratory holds DHA Facility License No. 1143 and is ISO 9001:2015 certified, ensuring every step from sample collection to reporting meets the highest standards of data security and clinical integrity.
Clinical & Logistical Metadata
| Test Name | ATRX Gene (X‑Linked Intellectual Disability with Hypotonic Facies Syndrome) Genetic Test |
| Price (AED) | 2 800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next‑Generation Sequencing (NGS) on Illumina® NovaSeq Platform |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 96536-3 |
| DHA Facility License & Laboratory Address | License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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