Test Price
2,800 AED✅ Home Collection Available
KCNQ1OT1 Gene Beckwith-Wiedemann Syndrome Genetic Test in UAE – 2800 AED
Executive Summary & Core Metrics
- 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing (Cert: INT/EGQ/2509DA/3139).
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – Available daily from 8 AM to 11 PM.
- Post-Test Clinical Guidance: Telephonic interpretation by DHA-certified genetics specialists in your preferred language.
- Insurance Billing: Direct verification via WhatsApp at +971 54 548 8731 — most regional plans accepted.
Test Overview & Methodology
The KCNQ1OT1 Gene Beckwith-Wiedemann Syndrome Genetic Test detects pathogenic variants or aberrant methylation in the KCNQ1OT1 locus on chromosome 11p15, confirming the diagnosis of Beckwith-Wiedemann syndrome (BWS) and enabling individualized cancer surveillance. This test is clinically essential for Clinical Geneticists (definitive diagnosis/pedigree correlation), Pediatric Oncologists (Wilms tumour/hepatoblastoma risk stratification), and Genetic Counselors (family planning and cascade testing). Using advanced Next Generation Sequencing (NGS), turnaround time is 3 to 4 working weeks at 2800 AED.
| Feature | Our Test (NGS) | Closest Alternative (Targeted MLPA) |
|---|---|---|
| Detection Method | NGS – full gene sequencing + methylation analysis | MLPA – limited to copy number & methylation status |
| Turnaround Time | 3–4 weeks | 2–3 weeks |
| Diagnostic Yield | >99% for sequence & epigenomic alterations | ~75% for classic BWS subtypes |
| Price | 2800 AED | ≈2500 AED (without sequencing depth) |
Physician Insight & Safety Protocols
"As a consultant medical geneticist, I understand that seeking a molecular diagnosis for Beckwith-Wiedemann syndrome can be emotionally challenging for families. This NGS-based test provides high-definition genomic clarity that directly informs cancer screening schedules and reduces uncertainty. Nevertheless, results must be interpreted alongside thorough clinical evaluation and genetic counselling; a negative finding does not eliminate all cancer risks, and continued multidisciplinary follow-up remains essential."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License: 9294403
Advisory – Medication Safety
Do not discontinue any prescribed medication or alter your child’s treatment plan based solely on this genetic test result without consulting your supervising physician. Management of BWS requires integrated care by a specialist team.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Insufficient DNA yield, improper sample collection, absence of valid informed consent (mandatory parental/guardian consent for minors under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Exclusion: Refusal to provide clinical history and family pedigree, which are essential for accurate variant interpretation.
- Red Flag: If the individual develops acute abdominal distension, palpable mass, blood in urine, or sudden jaundice, seek immediate Emergency Room evaluation — these may signal Wilms tumour or hepatoblastoma.
- Red Flag: Unexplained weight loss, persistent fever, or rapid breathing abnormalities require urgent oncologic assessment.
Patient FAQ & Clinical Guidance
1. What exactly does the KCNQ1OT1 gene test detect, and how reliable is it for Beckwith-Wiedemann syndrome?
The KCNQ1OT1 gene test analyses DNA methylation and sequencing variants in the 11p15.5 imprinting centre, providing over 99% diagnostic sensitivity for Beckwith-Wiedemann syndrome molecular subtypes. It identifies both loss- and gain-of-methylation changes that drive cancer predisposition, with results validated by ISO 9001:2015 accredited bioinformatics pipelines and confirmatory MLPA when needed.
2. How is the test performed and what sample is required in the UAE?
A DHA-licensed phlebotomist collects a single blood sample (3–5 mL in EDTA tube) or dried blood spot on an FTA card at your home or clinic, then transports it under cold-chain protocol to the genetics lab. No fasting is needed; genetic counselling and a pedigree chart are mandatory prior to analysis, in line with UAE PDPL data privacy regulations.
3. Is this genetic test safe for children, and what UAE laws apply?
Yes, the test is entirely safe for children when performed with valid guardian consent under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring full privacy and clinical appropriateness. All genetic data is stored and processed per the Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), and results are delivered only to the ordering physician and the biological parents or legal guardians.
UAE Regulatory & Data Privacy Adherence
Commitment to UAE Data Protection Laws
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic data is collected, stored, and processed in strict compliance with PDPL, ensuring your privacy and data sovereignty.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Electronic health records and digital communication adhere to this law, guaranteeing secure transmission and storage of your test results.
Clinical & Logistical Metadata
| Test Name | KCNQ1OT1 Gene Beckwith-Wiedemann Syndrome Genetic Test (NGS) |
| Price (AED) | 2800 AED |
| Turnaround Time | 3–4 working weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL EDTA) or dried blood spot (FTA card) |
| Methodology Used | Next Generation Sequencing (NGS) with methylation analysis |
| ICD-10-CM Code | Q87.3 |
| LOINC Code | 78041-8 |
| DHA Facility License & Laboratory Address | License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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