Test Price
2,800 AED✅ Home Collection Available
EZH2 Gene Sequencing (Weaver Syndrome) – Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary – Why Patients Trust Our EZH2 Test
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM – 11 PM daily).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation by DHA-licensed genetic specialists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test examines the entire coding region and splice sites of the EZH2 gene to identify pathogenic variants associated with Weaver syndrome (overgrowth-intellectual disability) and elevated cancer susceptibility.
| Feature | Our EZH2 NGS Test | Sanger Sequencing (Limited) |
|---|---|---|
| Methodology | Next-Generation Sequencing – full gene analysis (all exons, ± splice sites) | Sanger sequencing of selected exons (hotspot coverage only) |
| Diagnostic Sensitivity | 99.9% for all EZH2 pathogenic variants | ~70–80% (misses novel or deep intronic variants) |
| Turnaround Time | 3 to 4 weeks | 3 to 5 weeks |
| Variant Classification | ACMG/AMP 2025 guidelines with full in silico evidence | Limited bioinformatic support |
Physician Insight & Safety Protocols
Physician’s Note from Dr. Lina Osama Zaki Quteineh (Consultant Medical Genetics – DHA License: 9294403): “As your attending clinician, I want to underscore that this EZH2 test must be interpreted within the full clinical picture—a positive result confirms Weaver syndrome in a child with macrocephaly and developmental delay, while a negative result calls for further investigation of alternative diagnoses. Please remember that a test result does not define your child; it provides a roadmap to targeted management and surveillance. Never adjust or discontinue any prescribed medication, especially antiepileptics or growth-related therapies, without speaking to me first.”
Advisory: Medication Warning
⚠️ Important
Do not discontinue prescribed medication without consulting your doctor. Abrupt cessation of anti-seizure drugs or hormonal treatments can precipitate severe complications.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Inability to provide informed consent (adult/guardian); medically unstable condition requiring acute inpatient care.
- Emergency Red Flags – Seek urgent medical attention if: Sudden increase in head circumference (>2 SD within weeks), new-onset seizures, loss of previously acquired developmental milestones, or signs of leukemia/lymphoma (unexplained bruising, pallor, fever).
Patient FAQ & Clinical Guidance
1. What is EZH2 gene sequencing and why is it performed?
NGS test that analyzes EZH2 gene for pathogenic variants causing Weaver syndrome and cancer risks. It is indicated for children with overgrowth, distinctive facial features, and developmental delay, as well as adults with suspected familial cancer syndromes linked to EZH2 mutations.
2. How accurate is the test for diagnosing Weaver syndrome?
With 99.9% diagnostic sensitivity for EZH2 mutations, this NGS test provides definitive confirmation in suspected Weaver syndrome. Our laboratory uses advanced bioinformatics pipelines and confirms all variants with orthogonal methods, ensuring the highest level of clinical validity.
3. Is the test suitable for children?
Yes, it can be performed for infants and children with parental consent in accordance with UAE health regulations. A simple blood draw is used; no sedation required, and pre-test genetic counseling is provided.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This test adheres to 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. Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Facility licensed by DHA (License No. 1143).
Clinical & Logistical Metadata
| Test Name | EZH2 Gene Sequencing (Weaver Syndrome) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube) or extracted DNA |
| Methodology Used | Next-Generation Sequencing (Illumina platform) |
| ICD-10-CM Code | Q87.3 (Weaver syndrome) |
| LOINC Code | 77649-1 |
| 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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