Test Price
2,800 AED✅ Home Collection Available
KRT14 Gene Epidermolysis Bullosa Simplex, Weber-Cockayne Type NGS Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM – 11 PM).
- Clinical Guidance: Telephonic post-test consultation with a DHA-licensed Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) test comprehensively analyzes the KRT14 gene to confirm or rule out Weber-Cockayne type epidermolysis bullosa simplex (EBS-WC), a dominantly inherited skin fragility disorder characterized by blistering after minor trauma. The assay detects single nucleotide variants, small insertions/deletions, and copy number changes with >99% analytical sensitivity.
In contrast to targeted Sanger sequencing of one or two exons, our whole-gene NGS approach identifies both known and novel variants across all 8 exons and splice sites, providing a complete genotype. Turnaround time: 3–4 weeks from sample receipt.
| Feature | Our Test (NGS, ISO Lab) | Single‑Exon Sanger |
|---|---|---|
| Methodology | NGS – full gene sequencing, CNV analysis | Sanger, limited to 1–2 exons |
| Variant Detection | SNVs, indels, exon-level CNVs | SNVs/indels only in targeted region |
| Turnaround | 3–4 weeks | 4–6 weeks |
| Clinical Utility | Confirms diagnosis, family screening, genetic counselling | Partial – cannot exclude other mutations |
Physician Insight & Safety Protocols
“Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403) advises patients that a genetic test result is only one piece of the diagnostic puzzle; it must be correlated with clinical findings and family history. A negative NGS panel does not fully rule out EBS if a deep intronic variant or a large deletion outside the captured region exists. Please always discuss results with your referring dermatologist or clinical geneticist.”
Advisory: Medication and Safety
Do not discontinue prescribed medication (e.g., topical antibiotics, pain management) without consulting your doctor. Blister care should continue uninterrupted until you receive specific advice post‑test. If you develop widespread blistering with signs of dehydration, difficulty swallowing, or fever, seek emergency medical evaluation immediately — do not wait for the genetic result.
Exclusion Criteria & Urgent Safety Flags
- Exclusion: Active, uncontrolled systemic infection (fever >38.5°C) or severe acute skin sepsis near the collection site.
- Exclusion: Inability to provide adequate venous blood sample (severe thrombocytopenia, INR > 3.0).
- Exclusion for home collection: No responsible adult present if the patient is a minor. Home collection for minors strictly requires a guardian’s presence.
Patient FAQ & Clinical Guidance
1. What does the KRT14 NGS test detect and why do I need it?
This test identifies disease-causing mutations in the KRT14 gene, which causes Weber-Cockayne type epidermolysis bullosa simplex, a lifelong skin fragility disorder often presenting with palmoplantar blistering. Confirmation of the genetic variant enables precise diagnosis, prognosis, and family screening.
2. How is the home blood collection arranged and is it safe?
Our DHA-licensed phlebotomist performs a standard venipuncture using a cold-chain transport kit, ensuring sample stability from your door to the ISO lab within 4 hours. The VIP Mobile Phlebotomy service is available daily from 8 AM to 11 PM.
3. How long until I receive my KRT14 result and who will explain it?
Results are typically available in 3–4 weeks; you will receive a comprehensive report via secure email and a scheduled telephonic consultation with a genetic counsellor or the Consultant Medical Geneticist.
4. Is the test covered by my health insurance?
We offer direct billing with most UAE insurers. Please send a copy of your insurance card via WhatsApp to +971 54 548 8731 for pre‑authorisation verification prior to sample collection.
5. What are the benefits of NGS over traditional testing?
NGS sequences the entire KRT14 gene, including all exons and flanking intronic regions, simultaneously detecting single nucleotide variants, small insertions/deletions, and copy number variations. This reduces turnaround time and increases diagnostic yield compared to targeted Sanger sequencing.
UAE Regulatory & Data Privacy Adherence
Regulatory & Quality Assurance
Data privacy is governed by 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 adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Facility licensed by Dubai Health Authority (DHA License No. 1143). ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). All genetic testing is performed under medical supervision and with explicit informed consent.
Clinical & Logistical Metadata
| Test Name | KRT14 Gene Epidermolysis Bullosa Simplex, Weber-Cockayne Type NGS Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube) |
| Methodology Used | Next Generation Sequencing (NGS) – full gene sequencing with CNV analysis |
| ICD-10-CM Code | Q81.0, Z84.8, Z15.89 |
| LOINC Code | 92939-7 |
| DHA Facility License & Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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