Test Price
2,800 AED✅ Home Collection Available
GJB4 Gene Erythrokeratodermia Variabilis et Progressiva (EKVP) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين GJB4 لمرض حمامي الجلد التقرنية المتغيرة والمتقدمة في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
ملخص تنفيذي
- ضمان الدقة: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- خدمات لوجستية متميزة: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy (8 AM – 11 PM).
- إرشاد سريري: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed specialists.
- التأمين: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Clinical Utility
This Next-Generation Sequencing (NGS) test analyses the full coding region of the GJB4 gene to detect pathogenic variants causing Erythrokeratodermia Variabilis et Progressiva (EKVP), a rare autosomal dominant genodermatosis.
يكشف هذا الاختبار طفرات جين GJB4 بدقة عالية لتشخيص حمامي الجلد التقرنية المتغيرة والمتقدمة.
| Feature | Our Test (NGS GJB4) | Closest Alternative (Sanger Single-Gene) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity for coding & splice-site variants | ~95% sensitivity, may miss deep intronic variants |
| Methodology | Next-Generation Sequencing (NGS) | Sanger Sequencing |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Coverage | Full gene + flanking intronic regions | Selected exons only |
Physician Insight & Safety Protocol
Dr. PRABHAKAR REDDY (DHA License: 61713011) notes: This genetic test provides a molecular diagnosis for EKVP, but results must always be interpreted alongside your clinical presentation and family history. Positive findings guide targeted management and genetic counselling, while negative results do not exclude other genetic skin disorders.
Clinical Warning: Do not discontinue any prescribed medication without consulting your doctor.
Exclusion Criteria & Emergency Red Flags
- Active systemic infection or febrile illness (postpone collection).
- Known severe bleeding disorder (e.g., haemophilia) – physician clearance required.
- Acute dermatological flare with widespread blistering (risk of secondary infection).
- ER Red Flags: Sudden vision changes, hearing loss, or neurological symptoms in a patient with suspected EKVP – seek immediate emergency care; do not await test results.
Patient FAQ & Clinical Guidance
1. Who are the most relevant specialists for this test?
Snippet: A dermatologist, clinical geneticist, and genetic counsellor form the core clinical team for interpreting GJB4 gene results and managing EKVP.
These specialists collaborate to diagnose the condition, provide risk assessment for family members, and develop a personalised care plan. Prenatal testing may require additional maternal-fetal medicine input.
2. How should I prepare for the blood draw?
Snippet: No fasting is required; simply attend with your clinical history and a completed pedigree chart from your genetic counselling session.
Our home collection team uses a paediatric-friendly, one-drop blood FTA card if whole blood venipuncture is challenging. Continue all regular medications unless instructed otherwise by your doctor.
3. هل الاختبار مناسب للأطفال؟
مقتطف: نعم، يمكن إجراء الاختبار للأطفال بموجب موافقة الوالدين وفقًا لقانون المواد الخاضعة للرقابة لسنة 2026 في دولة الإمارات.
يستخدم فريقنا تقنية بطاقة FTA لأخذ عينة دم من الإصبع بدون ألم. يتم التعامل مع جميع البيانات الجينية بسرية تامة وفقًا لقانون حماية البيانات الشخصية الإماراتي.
Facility License: 9834453 · ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).
Compliant with Federal Decree-Law No. 41 of 2024 (Art. 87), UAE CDS Law 2026 (Minors), and UAE Personal Data Protection Law (PDPL).
LOINC: 82941-3 (GJB4 gene full mutation analysis). 2026 ICD-10-CM: Q82.8, Z84.89, Z13.79.
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