Test Price
2,800 AED✅ Home Collection Available
CEP57 Gene Analysis for Mosaic Variegated Aneuploidy Syndrome Type 2 (MVA2) in UAE | 2,800 AED
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity for all CEP57 pathogenic variants via ISO-accredited NGS processing.
- Service Scope: Full-gene sequencing, bioinformatic analysis, and DHA-licensed genetic counselor telephonic post-test guidance.
- Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM – 11 PM).
- Insurance & Billing: Direct billing verification via WhatsApp +971 54 548 8731.
- Price: 2,800 AED inclusive of counseling and clinical interpretation.
Test Overview & Methodology
CEP57 NGS testing delivers a definitive molecular diagnosis for Mosaic Variegated Aneuploidy Syndrome Type 2 (MVA2), a rare autosomal recessive disorder marked by constitutional mosaic aneuploidies, growth retardation, dysmorphic features, and elevated cancer risk. The assay sequences the entire CEP57 coding region and conserved splice sites using next-generation chemistry, enabling early clinical intervention and tailored surveillance protocols.
| Feature | Our CEP57 NGS Panel | Standard Sanger Sequencing |
|---|---|---|
| Method | Next-Generation Sequencing (NGS) with 100% target coverage | Sanger sequencing – limited to single amplicon |
| Diagnostic Sensitivity | 99.9% for all CEP57 SNVs and indels | ~95% for known hotspots only |
| Turnaround Time | 21–28 Days (3–4 Weeks) | 6–8 Weeks |
| Price | 2,800 AED | Not directly comparable (fragmented) |
Physician Insight & Safety Protocols
“CEP57 molecular confirmation is essential for initiating age-appropriate cancer surveillance and genetic counselling in families with MVA2 suspicion. This NGS-based test provides comprehensive variant detection that must be interpreted alongside clinical findings, pedigree analysis, and multidisciplinary evaluation. Patients and caregivers should never adjust prescribed treatments without direct consultation with their managing physician.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Note on Medication Continuity
⚠️ Important:
Do not discontinue or modify any prescribed medication without explicit instruction from your treating physician. This diagnostic test is intended to inform clinical management and does not replace ongoing medical care or emergency intervention.
Exclusion Criteria & Emergency Red Flags
- Specimen Rejection: Clotted blood, insufficient DNA yield, hemolyzed sample, or improper cold-chain transport.
- Exclusion: Patients who have received allogeneic bone marrow transplant within the last 6 weeks may have interfering donor DNA.
- Emergency Red Flags: Sudden vision loss, acute neurological deficit, new-onset seizures, or signs of acute abdomen (suggestive of Wilms tumor rupture) – seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What is the CEP57 gene test and why is it performed?
This next-generation sequencing test detects pathogenic variants in the CEP57 gene to confirm a diagnosis of Mosaic Variegated Aneuploidy Syndrome Type 2. It is indicated for children presenting with dysmorphic features, growth delay, and a family history suggestive of aneuploidy syndromes, enabling targeted cancer surveillance and genetic counselling.
2. What sample type is required and are there any preparation steps?
Acceptable specimens include peripheral whole blood (3–5 mL in EDTA), extracted genomic DNA, or a dried blood spot on an FTA card. A detailed clinical history and a genetic counselling session for pedigree construction are mandatory prior to sample collection. No fasting is required.
3. How long does the test take and what is the cost in the UAE?
The standard turnaround time is 21 to 28 days (3–4 weeks). The all-inclusive price is 2,800 AED, covering full-gene sequencing, bioinformatic analysis, and a telephonic post-test consultation with a DHA-licensed genetic counsellor.
4. Can home collection be arranged for this genetic test?
Yes. For standard peripheral whole blood specimens, our VIP Mobile Phlebotomy service operates daily from 8 AM to 11 PM under temperature-controlled cold-chain logistics. Contact our scheduling team via WhatsApp at +971 54 548 8731 to arrange a home visit.
UAE Regulatory & Data Privacy Adherence
This genetic testing service operates in full compliance with the UAE 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 procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory processes are certified under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). All genetic data is encrypted, access-controlled, and processed exclusively within UAE jurisdiction.
Clinical & Logistical Metadata
| Test Name | CEP57 Gene Analysis for Mosaic Variegated Aneuploidy Syndrome Type 2 (MVA2) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 Days (3–4 Weeks) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Extracted Genomic DNA, or FTA Card Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) – Full CEP57 Gene Coverage |
| ICD-10-CM Code | Q99.8 (Other specified chromosome abnormalities) |
| LOINC Code | 94473-2 (Gene targeted mutation analysis in Blood or Tissue by Molecular genetics method) |
| 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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