Test Price
2,800 AED✅ Home Collection Available
EXPH5 Gene Epidermolysis Bullosa, Nonspecific, Autosomal Recessive Genetic Test
Executive Summary & Core Metrics
- ● 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: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily from 8 AM to 11 PM).
- ● 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.
Test Overview & Methodology
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. The test provides a precise molecular diagnosis that aids in clinical confirmation and guides genetic counselling for affected families.
| 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 Protocols
“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.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
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. 4 of 2016 on Medical Liability, testing of minors requires documented parental/guardian consent following a genetic counselling session. All personal health data is protected under the 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.
Patient FAQ & 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.
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 VIP mobile phlebotomy service available across the Emirates from 8 AM to 11 PM with temperature‑controlled cold‑chain transport.
3. Will my insurance cover this genetic test and how do I verify?
Many UAE insurance plans cover medically indicated genetic testing for heritable conditions like epidermolysis bullosa. Our team provides a free, no‑obligation direct billing verification via WhatsApp at +971 54 548 8731 before scheduling.
UAE Regulatory & Data Privacy Adherence
Regulatory Trust & Compliance
All genetic testing services at DNA Labs UAE operate in full compliance with the 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. Patient data is encrypted, access‑controlled, and never shared without explicit consent. Clinical procedures adhere to the Medical Liability provisions of Federal Decree‑Law No. 4 of 2016. Our DHA‑licensed facility (License No. 1143) is located in Dubai Healthcare City, ensuring highest standards of laboratory practice and patient safety.
Clinical & Logistical Metadata
| Test Name | EXPH5 Gene Epidermolysis Bullosa, Nonspecific, Autosomal Recessive Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks (expedited options available) |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, FTA card |
| Methodology Used | Next‑Generation Sequencing (Illumina®) + Sanger confirmation |
| ICD-10-CM Code | Q81.9 |
| LOINC Code | 83537-7 |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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