Test Price
2,800 AED✅ Home Collection Available
KRT14 Gene Epidermolysis Bullosa Simplex, Weber-Cockayne Type NGS Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين KRT14 لانحلال البشرة الفقاعي البسيط نمط ويبر-كوكايين بتقنية التسلسل الجيني NGS في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO-Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy.
- Clinical Guidance: Telephonic post-test clinical guidance in result interpretation by a DHA-licensed specialist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
ملخص تنفيذي
يقدم اختبارنا الجيني المتقدم لتسلسل جين KRT14 دقة تشخيصية تصل إلى 99.9% لاكتشاف الطفرات المرتبطة بانحلال البشرة الفقاعي البسيط نمط ويبر-كوكايين، مع خدمة سحب منزلي باردة وفق معايير ISO، واستشارة هاتفية بعد النتائج، والتحقق المباشر من التأمين الصحي عبر واتساب.
Clinical & Genetic Overview
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 Protocol
“Dr. PRABHAKAR REDDY (DHA License: 61713011) 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.”
Medication Warning: 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.
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 (CDS Law 2026). Home collection for minors strictly requires a guardian’s presence.
- 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.
Frequently Asked Questions & 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.
يكشف هذا التحليل الطفرات المسببة للمرض في جين KRT14 المسبب لانحلال البشرة الفقاعي البسيط نمط ويبر-كوكايين، وهو اضطراب وراثي يظهر بتقرحات جلدية في راحة اليدين والقدمين بعد إصابات طفيفة.
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.
يقوم أخصائي سحب مرخص من هيئة الصحة بدبي بإجراء سحب وريدي قياسي باستخدام حقيبة نقل مبردة تحفظ العينة من باب المنزل إلى المختبر المعتمد ISO خلال 4 ساعات.
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.
تظهر النتائج عادة خلال 3–4 أسابيع، وتستلم تقريراً مفصلاً عبر البريد الإلكتروني الآمن مع استشارة هاتفية مجدولة مع مستشار وراثي لتفسير النتائج.
Regulatory & Quality Assurance
Federal Decree-Law No. 41 of 2024 (Art. 87) – genetic testing for inherited disorders is permitted under medical supervision. UAE CDS Law 2026 mandates guardian consent for minors. Data privacy governed by UAE PDPL. Facility license: 9834453. ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
Clinical Specialist Review: Dr. PRABHAKAR REDDY, DHA 61713011. Methodology: Next Generation Sequencing (NGS), validated against 2026 AI Medical Datasets and current gene‑disease validity (ClinGen). ICD‑10‑CM codes: Q81.0, Z84.8, Z15.89. LOINC: 92939-7.
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