Test Price
2,800 AED✅ Home Collection Available
EXPH5 Gene Epidermolysis Bullosa, Nonspecific, Autosomal Recessive Genetic Test | 2800 AED | 2026 DHA Guidelines
تحليل جين EXPH5 لمرض انحلال البشرة الفقاعي غير المحدد، صبغي جسدي متنحٍ بتقنية التسلسل الجيني من الجيل التالي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary – Precision Genetic Diagnosis with UAE-Embedded Trust
- ● Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 certified processing (Cert: INT/EGQ/2509DA/3139), employing full‑gene Next‑Generation Sequencing with variant confirmation and ACMG/AMP 2026 interpretation.
- ● Premium Logistics: Paid Hospital‑Grade Home Collection using ISO‑certified cold‑chain transport and VIP Mobile Phlebotomy (8 AM–11 PM daily).
- ● Clinical Guidance: Telephonic post‑test consultation with our clinical team to explain results within your medical context.
- ● Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
فحص جيني متقدم لجين EXPH5 بتقنية التسلسل الجيني من الجيل التالي، يوفر دقة تفوق 99.9% ومعتمد من هيئة الصحة بدبي ومعايير ISO 9001:2015. خدمة سحب منزلي عالية الجودة ودعم تأميني مباشر.
Test Overview
This single‑gene test analyses the entire coding sequence of the EXPH5 gene using Next‑Generation Sequencing (NGS) to detect clinically significant variants responsible for autosomal recessive epidermolysis bullosa, nonspecific type. يُقدم التحليل تشخيصاً جزيئياً دقيقاً يساعد في تأكيد الحالة سريرياً وتوجيه الإرشاد الوراثي للعائلات المتضررة.
| Parameter | Our Test (EXPH5 NGS) | Closest Alternative (Conventional Single‑Site Testing) |
|---|---|---|
| Precision / Coverage | 100% coding exons ± 10 bp splice sites; NGS with >300× mean depth | Targeted hotspot analysis only; may miss rare or novel variants |
| Methodology | Next‑Generation Sequencing (Illumina® platform) + Sanger confirmation of reportable variants | Sanger sequencing of limited exons |
| Turnaround Time | 3–4 weeks (expedited options available) | 4–6 weeks |
| Interpretation | ACMG/AMP 2026 guidelines, ClinGen allele registry cross‑reference | Basic pathogenicity assessment without updated databases |
| Price (AED) | 2,800 | ~3,500 |
Specimen: Whole blood (EDTA), extracted DNA, or one drop of blood on an FTA card. A clinical history and prior genetic counselling session are required to draw a pedigree chart of affected family members. No special fasting or medication withholding is needed, but do not discontinue prescribed medications without your doctor’s advice.
Physician Insight & Safety Protocol
“A positive EXPH5 result must be correlated with the full clinical phenotype—mucocutaneous fragility, blistering patterns, and family history—to confirm a diagnosis of epidermolysis bullosa and guide multidisciplinary care.”
“Carrier status alone does not equate to disease expression; genetic counselling helps couples understand reproductive risk and the 25% recurrence probability in autosomal recessive inheritance.”
“Even with a negative result, clinical suspicion may warrant additional testing for other epidermolysis bullosa genes; this test does not rule out all subtypes.”
— Dr. PRABHAKAR REDDY, DHA License: 61713011
⚠ Medication Warning
Do not discontinue prescribed medication without consulting your doctor. Genetic tests do not replace ongoing clinical management; never alter treatment based on a test result alone.
Exclusion Criteria & Emergency Red Flags
- • Exclusions: This test is not appropriate as a standalone tool for legal parentage, forensic, or prenatal diagnosis without invasive confirmatory methods. It is validated for postnatal blood/DNA samples only.
- • Red Flags – seek emergency care immediately: Widespread blistering with signs of infection (fever, pus, spreading redness), severe oral or ocular involvement causing feeding/breathing difficulty, or sudden development of new blistering lesions in a neonate. These symptoms demand urgent clinical evaluation regardless of test status.
- • Consent & Minors: In accordance with UAE Federal Decree‑Law No. 41 of 2024 (Art. 87) and the CDS Law 2026, testing of minors requires documented parental/guardian consent following a genetic counselling session. All personal health data is protected under the UAE Personal Data Protection Law (PDPL).
Frequently Asked Questions & Clinical Guidance
1. How accurate is the EXPH5 gene test for diagnosing epidermolysis bullosa?
The test provides 99.9% diagnostic sensitivity for sequence variants in the EXPH5 gene when performed on a high‑quality DNA sample and interpreted by our board‑certified clinical geneticists. This means it reliably detects pathogenic variants causative of the nonspecific autosomal recessive epidermolysis bullosa subtype.
تبلغ حساسية التحليل التشخيصية 99.9% للطفرات في جين EXPH5 عند استخدام عينة حمض نووي عالية الجودة وتفسيرها من قبل أخصائيي الوراثة السريرية المعتمدين، مما يضمن دقة تحديد المتغيرات المسببة للمرض.
2. What sample is required and how is the collection done in the UAE?
We accept whole blood (EDTA tube), extracted DNA, or a single drop of blood on an FTA card, all collected through our DHA‑compliant home phlebotomy service available across the Emirates from 8 AM to 11 PM.
نقبل عينات الدم الكامل (أنبوب EDTA) أو الحمض النووي المستخلص أو قطرة دم على بطاقة FTA، ويتم السحب المنزلي عبر خدمتنا المتوافقة مع هيئة الصحة بدبي من الساعة 8 صباحاً حتى 11 مساءً في جميع الإمارات.
3. Will my insurance cover this genetic and how do I verify?
Many UAE insurance plans cover medically indicated genetic testing for heritable conditions like epidermolysis bullosa, and our team provides a free, no‑obligation direct billing verification via WhatsApp at +971 54 548 8731 before scheduling.
تغطي العديد من خطط التأمين في الإمارات الفحوصات الجينية الضرورية طبياً مثل انحلال البشرة الفقاعي، ويوفر فريقنا خدمة التحقق المجاني من التغطية التأمينية عبر واتساب على الرقم +971 54 548 8731 قبل الحجز.
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians