Test Price
2,800 AED✅ Home Collection Available
Beckwith‑Wiedemann Syndrome (11p15) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary
- ✓ 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing
- ✓ Hospital-Grade Home Collection (8 AM – 11 PM) with Cold-Chain Logistics
- ✓ VIP Mobile Phlebotomy – FTA Card / Whole Blood / Extracted DNA
- ✓ Post-Test Clinical Guidance by DHA-Licensed Consultant Medical Geneticist
- ✓ Insurance Direct Billing Verification via WhatsApp: +971 54 548 8731
Test Overview & Methodology
The Beckwith‑Wiedemann Syndrome (BWS) NGS Test analyzes the 11p15 imprinting region using Next‑Generation Sequencing to detect pathogenic variants, methylation defects, and copy‑number changes. This test is the definitive molecular diagnostic tool for BWS and related overgrowth disorders, delivering comprehensive coverage of IC1/IC2 methylation status, CDKN1C, H19, and KCNQ1OT1 loci alongside genome‑wide CNV detection.
| Feature | Our Test (NGS – Full Gene & Methylation) | Closest Alternative (Targeted MLPA/MS‑MLPA) |
|---|---|---|
| Molecular Coverage | 11p15 IC1/IC2 methylation, CDKN1C, H19, KCNQ1OT1, genome‑wide CNV | Limited to IC1/IC2 methylation and major deletions |
| Sensitivity | 99.9% for all molecular subtypes | ~85% (misses rare point mutations) |
| Turnaround | 3–4 Weeks | 2–3 Weeks |
| Specimen | Blood / FTA Card / Extracted DNA | Blood only |
Physician Insight & Safety Protocols
“A molecular diagnosis of Beckwith‑Wiedemann syndrome opens a precise pathway for tailored surveillance rather than a deterministic cancer verdict. Every genetic finding must be integrated with clinical phenotype and three‑generation family history. Our role is to translate complex methylation patterns into actionable, proactive care plans for each patient.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Genetic Counselling & Clinical Oversight
A positive BWS result does not confirm malignancy; it indicates elevated risk for embryonal tumours and demands structured screening protocols. Do not alter any existing treatment or surveillance schedule without direct consultation with a qualified clinical geneticist or paediatric oncologist. All findings require correlation with full clinical history and physical examination.
Safety Exclusion Criteria & Emergency Red Flags
- Patients with active uncontrolled bleeding disorders must disclose risk before blood draw.
- Neonatal dried blood spot on FTA card must be collected exclusively by a trained phlebotomist; home collection without supervision is prohibited.
- Emergency Red Flags: Hypoglycaemia signs (sweating, lethargy, irritability) in infants with suspected BWS require immediate emergency assessment.
- If a pathogenic or likely pathogenic variant is identified, schedule urgent referral to paediatric oncology for initiation of tumour screening.
Patient FAQ & Clinical Guidance
1. What does the Beckwith‑Wiedemann syndrome genetic test detect and how is it performed?
This test uses next‑generation sequencing paired with methylation analysis to identify pathogenic variants, copy‑number changes, and imprinting defects across the entire 11p15 region. The procedure requires a simple peripheral blood sample or an FTA card specimen, collected either at our DHCC facility or via our certified mobile phlebotomy team.
2. How long do results take and what happens after I receive them?
Results are typically available within 3 to 4 weeks from sample receipt. Following report issuance, a DHA‑licensed consultant medical geneticist provides a dedicated telephonic post‑test counselling session to explain the molecular findings, outline cancer surveillance recommendations, and coordinate referrals to paediatric specialists if indicated.
3. Is home collection reliable and is this test covered by insurance in the UAE?
Yes, our ISO‑certified mobile phlebotomy service follows strict temperature‑controlled cold‑chain protocols from draw to laboratory receipt. We verify direct billing eligibility with all major UAE insurers via WhatsApp (+971 54 548 8731) before scheduling any home visit, ensuring transparent cost coverage upfront.
UAE Regulatory & Data Privacy Adherence
- Data Protection: All genetic information is processed 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.
- Informed Consent & Medical Liability: Clinical testing, safety protocols, and patient consent procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Quality Certification: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
- DHA Oversight: Fully licensed and regulated by the Dubai Health Authority under Facility License Number 1143.
Clinical & Logistical Metadata
| Test Name | Beckwith‑Wiedemann Syndrome (11p15) Genetic Test – NGS + Methylation |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), FTA Card, or Extracted DNA |
| Methodology Used | Next‑Generation Sequencing (NGS) + Methylation‑Specific MLPA / Bisulfite Sequencing |
| ICD-10-CM Code | Q87.3 |
| LOINC Code | 81254-5 |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
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All reports reviewed by DHA-Certified physicians