Test Price
1,400 AED✅ Home Collection Available
Rett Syndrome Deletion & Duplication Detection (MLPA) – DNA Labs UAE
Executive Summary & Core Metrics
🔬 Diagnostic Precision: MLPA technology with 99.9% sensitivity for exon‑level copy number variants in the MECP2 gene, processed under ISO 9001:2015 accredited protocols.
🚚 Sample Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
🩺 Post‑Test Support: Telephonic clinical guidance on result interpretation by a DHA‑licensed Consultant Medical Geneticist (Lina Osama Zaki Quteineh).
💳 Insurance & Billing: Direct billing verification via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
Rett Syndrome Deletion & Duplication Detection employs Multiplex Ligation‑dependent Probe Amplification (MLPA) to precisely identify copy number changes at single‑exon resolution in the MECP2 gene. This molecular assay serves as the definitive diagnostic confirmation for Rett syndrome, enabling early therapeutic intervention and genetic counselling for affected children in the UAE.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative |
|---|---|---|
| Precision | MLPA – single‑exon deletion/duplication detection | Sequencing – may miss large copy‑number variants |
| Methodology | ISO‑accredited MLPA with automated fragment analysis | Research‑grade MLPA or targeted NGS |
| Turnaround | 7–10 calendar days | 10–18 calendar days |
| Sample Collection | VIP mobile phlebotomy – cold‑chain, 8 AM–11 PM | Limited or non‑integrated cold chain |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA License: 9294403 advises: “A positive MLPA result for Rett syndrome must always be integrated with comprehensive clinical phenotyping by a multidisciplinary team. The presence of an MECP2 deletion confirms the diagnosis, but the child’s developmental trajectory relies on early intervention. I encourage families to use this result as a starting point for paediatric neurology and genetic counselling—not as a standalone prognosis.”
Medication & Management Advisory
⚠️ Important Clinical Guidance
Do not discontinue or alter prescribed medication without consulting the managing physician. Genetic findings supplement, not replace, ongoing medical management. Any concerns regarding acute seizures, respiratory distress, or haemodynamic instability must be directed to the nearest emergency department immediately.
Exclusion Criteria & ER Red Flags
- Active febrile illness requiring hospitalisation (defer elective genetic testing until resolved).
- Severe haemodynamic instability or acute respiratory distress — proceed to emergency department immediately.
- Uncontrolled seizure activity in the child — call 998 before scheduling sample collection.
- A valid doctor’s prescription is mandatory for this test; self‑referral is not accepted.
- Minors (under 18 years) must be accompanied by a parent or legal guardian. Patient consent procedures adhere strictly to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. Which specialists should review this Rett syndrome genetic test result?
The ideal tri‑specialist team includes a Clinical Geneticist to interpret gene‑specific deletions, a Pediatric Neurologist for seizure and motor management, and a Developmental Pediatrician for early intervention planning. This combination ensures comprehensive interpretation of the result and coordinated care.
2. What does a negative MLPA result indicate for Rett syndrome?
A negative MLPA result confirms that no large deletion or duplication was detected in the MECP2 gene. However, this does not exclude point mutations or atypical Rett syndrome variants. If clinical suspicion remains, the physician may recommend further sequencing of the MECP2 gene to identify small nucleotide changes.
3. Is home sample collection reliable for MLPA genetic testing?
Yes, our DHA‑approved phlebotomists use hospital‑grade cold‑chain transport systems that preserve DNA integrity throughout the logistics chain. Home collection achieves analytical reliability equivalent to in‑laboratory venipuncture for MLPA testing, provided the patient has a valid prescription.
UAE Regulatory & Data Privacy Adherence
🏛️ Regulatory Compliance: DNA Labs UAE operates under DHA Facility License Number 1143. All personal and genetic data is processed and stored exclusively within the UAE in strict accordance 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. Your data remains sovereignty‑protected and is never transferred outside national borders.
Clinical & Logistical Metadata
| Test Name | Rett Syndrome Deletion & Duplication Detection (MLPA) |
| Price (AED) | 1,400 AED |
| Turnaround Time | 7–10 calendar days |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube) |
| Methodology Used | Multiplex Ligation‑dependent Probe Amplification (MLPA) with capillary electrophoresis fragment analysis |
| ICD-10-CM Code | F84.2 (Rett's syndrome) |
| LOINC Code | 82897-9 (MECP2 gene targeted mutation analysis) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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