Test Price
2,800 AED✅ Home Collection Available
ENPP1 Gene Cole Disease Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
✔ Accuracy Guarantee:
99.9% diagnostic sensitivity via ISO-accredited next-generation sequencing. Dual-run verification protocol eliminates false positives in ENPP1 gene analysis.
✔ Premium Logistics:
VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM. Whole blood, extracted DNA, or FTA card specimens accepted.
✔ Clinical Guidance:
Post-test telephonic guidance by DHA-licensed genetics professionals with results interpreted in the context of Cole disease and differential diagnoses.
✔ Insurance Coordination:
Direct billing verification via WhatsApp +971 54 548 8731 – coordinated with all major UAE medical networks.
Test Overview & Methodology
The ENPP1 NGS test fully sequences the ENPP1 gene to detect pathogenic variants responsible for Cole disease, characterized by palmoplantar keratoderma with leukoplakia. This single-tube assay replaces multi-step Sanger sequencing, delivering a comprehensive report with clinical interpretation.
| Feature | Our Test (ENPP1 NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | Greater than 99.9% sensitivity for all coding regions and splice sites; validated SOP | High specificity for targeted amplicons, but fails to detect deep intronic or regulatory variants |
| Method | Next-generation sequencing (Illumina NovaSeq) with advanced bioinformatics | Capillary electrophoresis-based Sanger of selected exons |
| Speed | 21–28 business days from sample receipt | 6–8 weeks (sequential exon walking) |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Genetics, I emphasize that ENPP1 genetic testing must be interpreted alongside clinical dermatological findings and family history. A pathogenic variant confirms Cole disease and enables proactive monitoring for associated complications, but does not replace regular dermatological surveillance. Please discuss all clinical decisions with your managing physician.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue or modify any prescribed medications or topical therapies without consulting your treating physician. Abrupt cessation of keratolytic agents or immunomodulators may worsen cutaneous manifestations.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria: Patients unable to provide informed consent; genetic testing of minors without parental or guardian consent per UAE Federal Law; severe bleeding disorders contraindicating blood draw; active infection at the collection site.
Emergency Red Flags: Excessive bleeding unresponsive to pressure, signs of infection (redness, pus, fever), or anaphylactic symptoms (difficulty breathing, swelling) require immediate emergency care.
Patient FAQ & Clinical Guidance
1. What is the ENPP1 gene test for Cole disease?
A positive result confirms a pathogenic mutation in ENPP1, establishing a molecular diagnosis of Cole disease with palmoplantar keratoderma and possible oral leukoplakia. This genetic information guides surveillance and family counseling.
2. How should I prepare for the blood sample collection?
No fasting is required. You must complete a pre-test genetic counseling session and provide a detailed three-generation family pedigree documenting any Cole disease symptoms.
3. Will my health insurance cover the cost of this genetic test?
Most UAE medical insurance plans with genetic testing riders cover the 2,800 AED cost. We verify coverage upfront via WhatsApp +971 54 548 8731 and provide direct electronic billing.
UAE Regulatory & Data Privacy Adherence
This service 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 safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory facility licensed by DHA under Facility License Number 1143.
Clinical & Logistical Metadata
| Test Name | ENPP1 Gene Sequencing – Cole Disease Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 Business Days |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina NovaSeq Platform |
| ICD-10-CM Code | Q82.8, Z15.89, Z13.79 |
| LOINC Code | 98349-2 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians