Test Price
2,800 AED✅ Home Collection Available
BRAF Gene Cardiofaciocutaneous Syndrome Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity via ISO 15189 & ISO 9001:2015 Accredited Processing
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM)
Telephonic Post-Test Clinical Guidance in Result Interpretation by a DHA-Licensed Consultant Medical Geneticist
Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
This next-generation sequencing (NGS) test comprehensively analyzes the entire coding region of the BRAF gene to diagnose Cardiofaciocutaneous (CFC) syndrome, a rare RASopathy presenting with congenital heart defects (pulmonary valve stenosis, septal defects), distinctive facial features, and skin/hair abnormalities. It is the definitive molecular tool for differentiating CFC from clinically overlapping syndromes like Noonan and Costello syndromes.
| Feature | Our BRAF CFC NGS Test | Closest Alternative (Panel-Based Screening) |
|---|---|---|
| Precision | 99.9% base-level accuracy with 300x average coverage on BRAF gene | May only cover hotspot exons or selected variants |
| Method | Illumina NovaSeq X Plus with Sanger confirmation of all reported variants | Multiplex ligation-dependent probe amplification (MLPA) or limited Sanger |
| Turnaround Time | 3–4 Weeks (expedited processing available) | 4–7 Weeks |
Physician Insight & Safety Protocols
"A positive BRAF variant confirms CFC syndrome, but negative NGS does not entirely exclude it; mosaicism or deep intronic variants may rarely be missed. I always interpret results in the context of comprehensive clinical phenotyping by a multidisciplinary team including a cardiologist and clinical geneticist. Early diagnosis enables targeted cardiac surveillance and developmental intervention, significantly improving long-term quality of life."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Safety Notice: Never Discontinue Medications
Do not discontinue prescribed cardiac, respiratory, or antiepileptic medications before this test. Genetic testing does not substitute for ongoing clinical management. Always consult your treating physician.
Exclusion Criteria & Red Flags for Urgent Evaluation
- Acute decompensated heart failure or unstable arrhythmia – postpone testing until medically stabilized.
- Current high fever (>38.5°C) or active systemic infection may affect sample quality; reschedule after recovery.
- If the patient is a minor, mandatory genetic counselling with documented parental/guardian consent is required under UAE Federal Law No. 2 of 2019.
- Contact emergency services immediately if the patient experiences sudden cyanosis, severe dyspnea, or loss of consciousness.
Patient FAQ & Clinical Guidance
1. What is this test used for, and who should consider it?
This NGS test detects pathogenic variants in the BRAF gene to confirm a clinical diagnosis of Cardiofaciocutaneous syndrome in newborns, children, or adults with characteristic heart defects, facial dysmorphism, and failure to thrive. It is indicated when a RASopathy is suspected but other syndrome-specific tests are negative, and it also helps in cascade family screening.
2. How is the sample collected and is it painful for my child?
For pediatric patients we offer a virtually painless dried blood spot (FTA card) collection or a single gentle venous draw by a specialist pediatric phlebotomist; if preferred, extracted DNA from a buccal swab can be used instead of blood. The entire process follows UAE’s compassionate pediatric protocols and minimizes discomfort.
3. How reliable is the result and will I receive interpretation support?
Our test achieves 99.9% analytical sensitivity and specificity for BRAF coding variants, with every report reviewed by a DHA-licensed Consultant Medical Geneticist; post-test, a telephonic clinical guidance session is provided to explain the findings in plain language and recommend next steps with your cardiologist or geneticist.
UAE Regulatory & Data Privacy Adherence
Your Data, Your Rights
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. All genetic data is encrypted, access-controlled, and processed solely for diagnostic purposes. Certified ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).
For appointments, insurance verification, or pre-counselling, contact +971 54 548 8731 or WhatsApp us.
Clinical & Logistical Metadata
| Test Name | BRAF Gene Cardiofaciocutaneous Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (expedited processing available) |
| Sample Type / Matrix | Peripheral Whole Blood or Buccal Swab (DNA Extraction) |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq X Plus with Sanger Confirmation |
| ICD-10-CM Code | Q87.89 (Other specified congenital malformation syndromes) |
| LOINC Code | 81263-1 (BRAF gene targeted mutation analysis) |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians