KRT14 Gene Epidermolysis Bullosa Simplex, Koebner Type Genetic Test
Test Price
2,800 AEDโ Home Collection Available
KRT14 Gene Epidermolysis Bullosa Simplex, Koebner Type Genetic Test in UAE | 2,800 AED | DHA-Licensed NGS Diagnostics
Executive Summary & Core Metrics
Executive Summary & Premium Logistics
- โ 99.9% Diagnostic Sensitivity โ ISO 9001:2015 certified NGS processing with full coding region and splice-site coverage.
- โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection โ DHA-licensed phlebotomist available daily 8 AM to 11 PM; sample accepted as whole blood, extracted DNA, or FTA card.
- โ Post-Test Clinical Guidance โ Complimentary telephonic result interpretation session with a DHA-licensed genetic counsellor.
- โ Insurance Direct Billing โ Verify coverage via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The KRT14 gene, encoding keratin 14, is the definitive molecular marker for Epidermolysis Bullosa Simplex (EBS), Koebner type. This Next-Generation Sequencing (NGS) test interrogates the entire coding region and flanking splice sites of KRT14 with single-nucleotide resolution, identifying pathogenic variants responsible for the mechanobullous phenotype. The assay achieves 99.9% diagnostic sensitivity for single-nucleotide variants, small insertions and deletions, and copy-number alterations within the target region.
| Feature | Our Test (NGS) | Sanger Sequencing (Alternative) |
|---|---|---|
| Methodology | Whole coding region + splice sites via NGS (Illumina platform) | Targeted single-amplicon Sanger sequencing |
| Variant Detection | SNVs, indels, and copy-number variants with 99.9% sensitivity | Only SNVs and small indels in the analyzed region; CNVs often missed |
| Turnaround Time | 3โ4 Weeks | 4โ6 Weeks (limited by sequential analysis) |
| Clinical Reporting | ACMG/AMP variant classification with detailed clinical correlation | Basic pathogenicity prediction; limited interpretative support |
| Regulatory Compliance | DHAโMOHAP approved, UAE PDPL compliant | Variable; may lack local accreditation |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
โIdentifying a pathogenic KRT14 variant through NGS provides a precise molecular anchor for Epidermolysis Bullosa Simplex, Koebner type. However, the genetic result must always be correlated with the patient's dermatological phenotype, blister distribution, and family history. I strongly recommend pre- and post-test genetic counselling with a qualified specialist to discuss inheritance patterns, reproductive implications, and long-term surveillance. A molecular diagnosis does not replace ongoing clinical monitoring for complications such as secondary infection or dysphagia.โ
Advisory & Consent Framework for Genetic Testing
Informed consent is mandatory before sample collection. Patients must receive pre-test counselling explaining the scope of KRT14 analysis, potential incidental findings, data handling procedures, and the right to withdraw consent at any stage. Minors require written consent from a legal guardian. All procedures comply with Federal Decree-Law No. 4 of 2016 on Medical Liability, which governs patient safety and clinical accountability.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Inability to provide informed consent (mandatory pre-test genetic counselling required).
- Minors without legal guardian consent โ strictly regulated under UAE Federal Law.
- Recent allogeneic bone marrow transplant may interfere with blood-derived DNA; please discuss with our lab before sample collection.
- Unsuitable sample type (e.g., saliva without stabilizer); only whole blood, extracted DNA, or FTA card accepted.
Seek Emergency Care If
- Sudden, severe blistering with fever, chills, or pus (possible bacteremia).
- Difficulty swallowing (dysphagia) or breathing (laryngeal involvement).
- Signs of sepsis: rapid heart rate, confusion, extreme lethargy.
- Skin detachment covering more than 5% body surface area.
Patient FAQ & Clinical Guidance
1. What does the KRT14 NGS test detect and how accurate is it?
This test detects single-nucleotide variants, small insertions and deletions, and copy-number changes across the entire coding region and splice sites of the KRT14 gene with 99.9% diagnostic sensitivity. It is the gold standard molecular assay for confirming Epidermolysis Bullosa Simplex, Koebner type.
2. How is the sample collected and do I need to visit the lab?
No lab visit is required. A DHA-licensed phlebotomist will visit your home between 8 AM and 11 PM daily for a venous blood draw (3โ5 mL in EDTA) or a finger-prick FTA card collection. All samples are transported via temperature-controlled cold chain.
3. Will my genetic data be protected under UAE law?
Yes. All genetic information is securely encrypted and stored in 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. Your data is never shared without explicit written consent.
UAE Regulatory & Data Privacy Adherence
Your Privacy & Legal Protections
DNA Labs UAE operates under a comprehensive governance framework that prioritises patient data privacy and clinical safety. All genetic testing and data processing activities strictly adhere to:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ governing the collection, storage, and sharing of personal health data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ regulating digital health records and telemedicine practices.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ ensuring clinical accountability and patient safety throughout the testing pathway.
Our DHA-licensed facility (License No. 1143) undergoes regular audits to maintain compliance. Patients may request access to their genetic data or its deletion at any time.
Clinical & Logistical Metadata
| Test Name | KRT14 Gene Epidermolysis Bullosa Simplex, Koebner Type Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (3โ5 mL in EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) โ Illumina Platform; Full Coding Region & Splice Sites |
| ICD-10-CM Code | Q81.0 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DHA License No. 1143 | DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
โ๏ธ Medical Disclaimer
This test information is for educational purposes only and does not constitute medical advice. Results should be interpreted by a qualified healthcare professional. Always consult with a DHA-licensed physician for diagnosis and treatment decisions.
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All reports reviewed by DHA-Certified physicians