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Test Price

2,800 AED

✅ Home Collection Available

EFNB1 Gene Craniofrontonasal Syndrome Genetic Test | 2800 AED

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
  • Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The EFNB1 gene NGS test identifies pathogenic variants causing Craniofrontonasal Syndrome (CFNS), an X-linked disorder characterized by craniofacial asymmetry, skeletal anomalies, and nail dysplasia. Accurate genetic diagnosis is essential for multidisciplinary care and family counselling.

Feature Our NGS Test Sanger Sequencing (Alternative)
Methodology Massively Parallel Next-Generation Sequencing Single-Gene Chain-Termination
Gene Coverage Full coding regions, splice sites, deep intronic variants Limited to selected exons, possible missing deep variants
Turnaround Time 3-4 Weeks (ultra-high accuracy) 6-8 Weeks (sequential analysis)
Diagnostic Yield >99.9% sensitivity ~95% sensitivity

Physician Insight & Safety Protocols

“As a DHA-licensed clinical geneticist, I emphasize that this genetic test provides critical molecular information that must be correlated with a thorough clinical examination by a qualified medical professional. The results can profoundly guide medical management, surgical planning, and family counselling. Our team is committed to supporting you with compassionate interpretation every step of the way. Please remember that no laboratory test replaces comprehensive clinical evaluation.”

— Lina Osama Zaki Quteineh (DHA Registration ID: 9294403)

⚠ Medication Advisory

Do not discontinue any prescribed medication without consulting your doctor. Genetic results do not alter immediate treatment needs.

Exclusion Criteria & Emergency Red Flags

  • Exclusion: Inability to provide informed consent, non-viable sample (clotted or severely hemolyzed blood), acute psychiatric crisis, or current hospitalization for an unrelated emergency.
  • Red Flags: If you experience severe pain, respiratory distress, altered consciousness, or uncontrolled bleeding, go to the nearest emergency department immediately. Do not wait for genetic test results.

Patient FAQ & Clinical Guidance

1. What does the EFNB1 gene test detect?

The test uses next-generation sequencing to identify pathogenic variants in the EFNB1 gene, providing a definitive molecular diagnosis for Craniofrontonasal Syndrome. This condition affects craniofacial symmetry, skeletal development, and nail morphology, and accurate genetic diagnosis is essential for multidisciplinary care.

2. How is the sample collected for this DNA test?

A certified phlebotomist performs home collection under ISO-certified cold-chain conditions. A small volume of whole blood (3-5 mL in EDTA tube) is drawn from a peripheral vein, or a single drop is placed on an FTA card. No fasting or special preparation is needed, and the sample is transported at 2-8°C to our accredited laboratory.

3. How long until I receive my results?

Expect a turnaround time of 3-4 weeks from sample receipt. Genetic counselling sessions with our clinical geneticist are available for result interpretation and family guidance.

UAE Regulatory & Data Privacy Adherence

This genetic test is performed in full compliance 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. Patient consent and clinical safety follow Federal Decree-Law No. 4 of 2016 on Medical Liability. All data is encrypted and stored securely within UAE borders.

Clinical & Logistical Metadata

Test Name EFNB1 Gene Craniofrontonasal Syndrome Genetic Test (NGS)
Price (AED) 2,800 AED
Turnaround Time 3-4 Weeks
Sample Type / Matrix Peripheral Whole Blood (EDTA) or FTA Card
Methodology Used Next-Generation Sequencing (NGS) – Whole Gene Analysis
ICD-10-CM Code Q87.0
LOINC Code 21636-6
DHA Facility License & Laboratory Address DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE

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