Test Price
2,800 AED✅ Home Collection Available
RAI1 Gene Smith‑Magenis Syndrome Genetic Test in Dubai
Executive Summary & Core Metrics
Clinical & Diagnostic Certainty
- ✓Accuracy Guarantee: 99.9% diagnostic sensitivity for RAI1 pathogenic variants – processed in ISO 9001:2015 certified genomic facility (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: Post‑test tele‑counselling by Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA: 9294403). Your results are explained in plain language, integrated with your family history.
- ✓Insurance Direct Billing: Verify coverage instantly via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The RAI1 Gene NGS Test sequences the entire coding region of the RAI1 gene to detect point mutations, small insertions/deletions, and copy number variations causative of Smith‑Magenis syndrome – a neurodevelopmental disorder. It employs high‑depth Next‑Generation Sequencing (Illumina®) with confirmatory Sanger sequencing for clinically actionable variants, ensuring results suitable for clinical diagnosis, carrier screening, and family planning in the UAE.
| Feature | Our Test – RAI1 Genetic Test | Closest Alternative – Chromosomal Microarray (CMA) / FISH |
|---|---|---|
| Precision | Single‑nucleotide resolution; detects SNVs, indels, and intragenic CNVs | Only detects large deletions (~3.7 Mb 17p11.2); misses point mutations (30% of cases) |
| Methodology | Next‑Generation Sequencing (Illumina®) + Sanger validation | Array CGH or FISH probes limited to common deletion interval |
| Turnaround & Interpretation | 3–4 Weeks, with ACMG-based variant classification & clinical report | 2–3 Weeks, report only detects deletion size; no point mutation data |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics at DNA Labs UAE, I emphasise that this test provides definitive molecular confirmation of Smith‑Magenis syndrome. However, it must be interpreted in the context of a comprehensive clinical evaluation and family pedigree. Pre‑test genetic counselling is mandatory, and I encourage all families to discuss the implications with a genetic specialist before testing.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA: 9294403)
Medication Safety Advisory
⚠ Medication & Safety Warning
Do not discontinue prescribed medication without consulting your doctor. Genetic testing does not replace ongoing treatment plans.
Patient Exclusion & Emergency Red Flags
Exclusion Criteria
- Asymptomatic minors without clinical suspicion of Smith‑Magenis syndrome
- Patients who have not undergone pre‑test genetic counselling (mandatory per UAE health regulations)
- Unavailability of a legal guardian consent for individuals under 18 years
Emergency Red Flags – Go to ER if
- Acute onset of seizures or loss of consciousness
- Sudden behavioural regression or severe agitation
- Breathing difficulties, choking, or cyanosis
Patient FAQ & Clinical Guidance
1. What is RAI1 gene testing used for?
The RAI1 gene test identifies pathogenic DNA changes that cause Smith‑Magenis syndrome, a genetic neurodevelopmental condition. It is indicated for patients presenting with intellectual disability, sleep disturbance, self‑injurious behaviours, and characteristic facial features. A positive result confirms the diagnosis and guides medical surveillance, while a negative result may prompt evaluation for other microdeletion syndromes or whole exome sequencing.
2. How is the sample collected in UAE?
A certified phlebotomist performs home‑based blood collection using a DNA‑stabilising FTA card, ensuring cold‑chain integrity. A single drop of blood from a finger prick or standard venipuncture is applied to the card. The sample is then transported in a temperature‑controlled kit to our ISO‑certified lab. Home collection is available free of charge across all UAE emirates from 8 AM to 11 PM, with results delivered securely online.
3. How long to get results and what does the report include?
Results are delivered in 3‑4 weeks via secure digital report, including variant classification and clinical interpretation. The report lists detected variants with ACMG/AMP classification (pathogenic, likely pathogenic, VUS), zygosity, and a clinical synopsis. An optional tele‑consultation with a genetic counsellor can be scheduled to explain findings and suggest next steps.
UAE Regulatory & Data Privacy Adherence
Compliance with UAE Federal Laws
- Data Protection: Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Data Security: Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Medical Liability & Patient Consent: Federal Decree-Law No. 4 of 2016 on Medical Liability.
DNA Labs UAE operates under DHA Facility License No. 1143 and adheres to all applicable UAE regulatory frameworks for genetic testing and data governance.
Clinical & Logistical Metadata
| Test Name | RAI1 Gene Smith‑Magenis Syndrome Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Blood (Whole Blood or Plasma) on FTA Card |
| Methodology Used | Next‑Generation Sequencing (Illumina®) + Sanger Validation |
| ICD-10-CM Code | Q87.19 |
| LOINC Code | 81320-6 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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