Test Price
2,800 AED✅ Home Collection Available
MAP2K1 Gene Analysis for Cardiofaciocutaneous Syndrome Type 3 (CFC3) – 2,800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: >99.9% diagnostic sensitivity for MAP2K1 pathogenic variants via ISO 9001:2015 accredited NGS processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available UAE-wide, daily 8 AM – 11 PM.
- Clinical Guidance: Comprehensive pre- and post-test telephonic counseling by a DHA-licensed Consultant Medical Geneticist.
- Insurance & Billing: Direct billing verification and insurance pre-authorization via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The MAP2K1 gene test utilizes Next-Generation Sequencing (NGS) to detect pathogenic variants associated with Cardiofaciocutaneous syndrome type 3 (CFC3), a rare RASopathy characterized by congenital heart defects, distinctive facial features, and ectodermal abnormalities. DNA extracted from peripheral blood undergoes targeted enrichment and high-depth sequencing to identify single nucleotide variants and small insertions or deletions.
| Feature | Our Test (NGS) | Closest Alternative (Sanger / Panel) |
|---|---|---|
| Methodology | Full gene sequencing by NGS | Targeted mutation analysis or limited panel |
| Diagnostic Sensitivity | >99.9% for known pathogenic variants | ~85-90% (misses novel or rare variants) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Home Collection | Yes, UAE-wide VIP Phlebotomy | Often limited or facility-based |
Physician Insight & Safety Protocols
"As a Consultant Medical Geneticist specializing in RASopathies, I emphasize that molecular confirmation via MAP2K1 sequencing is critical for guiding cardiac surveillance and developmental interventions in affected individuals. A multidisciplinary approach involving cardiology, genetics, and dermatology is essential for comprehensive management." — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Note on Genetic Testing & Medication
All genetic testing requires written informed consent. Results should be interpreted in the context of full clinical history and family pedigree analysis. Do not discontinue prescribed medications without consulting your managing physician. A positive result confirms the diagnosis and directs cardiac surveillance; a negative result does not exclude other genetic causes and may warrant broader genomic re-analysis.
Safety Exclusion & Emergency Red Flags
- Exclusion Criteria: Inability to provide venous blood or extracted DNA sample; lack of informed consent; patient not meeting clinical diagnostic criteria for a RASopathy spectrum disorder.
- ER Red Flags: New-onset cyanosis, severe respiratory distress, or acute heart failure in infants or children undergoing evaluation for suspected CFC3 — seek immediate emergency care.
- Data Privacy: All genetic data is processed in strict compliance with 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.
Patient FAQ & Clinical Guidance
1. What is Cardiofaciocutaneous syndrome type 3 and why is MAP2K1 testing important?
Cardiofaciocutaneous syndrome type 3 (CFC3) is a rare autosomal dominant disorder caused by mutations in the MAP2K1 gene. It is part of the RASopathy family and features congenital heart defects, characteristic facial dysmorphism, and ectodermal abnormalities. Definitive diagnosis relies on next-generation sequencing of MAP2K1 to guide cardiac surveillance and developmental support.
2. How accurate is the NGS test and what is the turnaround time?
Our NGS test achieves greater than 99.9% diagnostic sensitivity for pathogenic variants in the MAP2K1 gene. Results are typically delivered within 3 to 4 weeks from sample collection, allowing for timely clinical decision-making.
3. How do I arrange home collection in the UAE and verify insurance coverage?
We provide VIP mobile phlebotomy and temperature-controlled cold-chain home collection across all seven emirates, available daily from 8 AM to 11 PM. Direct insurance verification and billing pre-authorization can be completed via WhatsApp at +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE strictly complies 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. Clinical genetic testing safety and patient consent protocols are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Our DHA-licensed facility (License No. 1143) located in Dubai Healthcare City adheres to the highest international standards of genomic data confidentiality, ethical testing practices, and ISO 9001:2015 quality management. All genetic information is processed, stored, and transmitted using encrypted, access-controlled systems.
Clinical & Logistical Metadata
| Test Name | MAP2K1 Gene Analysis for Cardiofaciocutaneous Syndrome Type 3 (CFC3) |
| Price (AED) | 2,800 |
| Turnaround Time | 14 – 21 Days (3–4 Weeks) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Sequencing |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 77080-0 |
| DHA Facility License & Lab Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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