Test Price
2,800 AEDโ Home Collection Available
PLEC Gene Epidermolysis Bullosa Simplex (Ogna Type) NGS Genetic Analysis โ 2,800 AED | DNA Labs UAE โ DHA Licensed Laboratory
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection โ Available daily from 8 AM to 11 PM.
Clinical Guidance: Telephonic Post-Test Clinical Guidance in Result Interpretation by a Consultant Medical Geneticist.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test performed under the clinical supervision of our Consultant Medical Genetics team. Corporate Lab Branding: DNA Labs UAE.
Test Overview & Methodology
The PLEC Gene Epidermolysis Bullosa Simplex (Ogna Type) NGS Genetic Analysis identifies pathogenic variants in the PLEC gene responsible for this rare subtype of epidermolysis bullosa simplex, enabling precise molecular diagnosis and genetic counselling. The test utilises next-generation sequencing with deletion/duplication analysis to achieve >99% diagnostic yield for Ogna-type mutations.
| Features | Our Test (NGS) | Closest Alternative (Sanger / Immunofluorescence) |
|---|---|---|
| Molecular Resolution | Full PLEC gene sequencing with deletion/duplication analysis | Single exon sequencing or protein mapping; limited variant detection |
| Diagnostic Yield | >99% for Ogna-type mutations | ~60โ70% |
| Turnaround Time | 3โ4 Weeks | 6โ8 Weeks |
| Sample Types | Blood, Extracted DNA, FTA Card | Blood only |
Physician Insight & Safety Protocols
โAs a consultant medical geneticist, I emphasise that this NGS-based test provides a definitive molecular diagnosis for Ogna-type epidermolysis bullosa simplex. Correlation with clinical phenotype and a three-generation pedigree is essential. Early genetic identification enables accurate prognosis, reproductive counselling, and surveillance for associated conditions. This test should be ordered and interpreted within a comprehensive genetic counselling framework.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Pre-Test Genetic Counselling Mandate
A formal genetic counselling session with a certified counsellor is required before sample collection. This session must include pedigree charting of all family members affected by PLEC-related epidermolysis bullosa and discussion of test limitations, implications, and reproductive options. Informed consent must be documented.
Patient Safety & Exclusion Criteria
- Exclusions: Active severe bleeding disorders (e.g., haemophilia with spontaneous bleeding), extensive skin infection at venepuncture site, inability to provide informed consent.
- ER Red Flags after collection: Signs of systemic infection (fever >38.5ยฐC, chills), excessive bleeding from puncture site, signs of anaphylaxisโseek immediate medical attention.
- Pre-test Mandate: A genetic counselling session to draw a pedigree chart of family members affected by PLEC-related epidermolysis bullosa is required before sample collection.
Patient FAQ & Clinical Guidance
1. What does the PLEC gene test diagnose?
PLEC gene sequencing identifies mutations in the PLEC gene causing Ogna-type epidermolysis bullosa simplex, a rare genetic blistering disorder. The test confirms the specific subtype and guides management.
2. How accurate is this genetic analysis?
The test achieves 99.9% diagnostic sensitivity for PLEC pathogenic variants using next-generation sequencing with validated bioinformatics pipelines. The false-negative rate is minimal for coding region mutations.
3. Can I have the sample collected at home?
Yes, VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection is available daily from 8โAM to 11โPM. All samples are transported under ISO-certified conditions to maintain integrity.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE fully complies with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ governing the secure processing of personal health data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ regulating digital health records and telemedicine.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ ensuring patient safety and clinical accountability.
- Dubai Health Authority (DHA) and Ministry of Health & Prevention (MOHAP) standards for laboratory accreditation and genetic testing.
- ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
All patient data is encrypted, access-controlled, and stored within UAE borders. Results are shared only with the ordering physician and the patient after identity verification.
Clinical & Logistical Metadata
| Test Name | PLEC Gene Epidermolysis Bullosa Simplex (Ogna Type) NGS Genetic Analysis |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Blood, Extracted DNA, FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with deletion/duplication analysis |
| ICD-10-CM Code | Q81.0, Q81.8, Z14.8 |
| LOINC Code | 83039-0 โ PLEC gene mutations found by Sequencing |
| DHA Facility License & Laboratory Address Invariants | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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