Test Price
2,800 AEDโ Home Collection Available
FECH Gene Sequencing for Erythropoietic Protoporphyria (EPP) in the UAE
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
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 for result interpretation by a DHA-licensed Consultant Medical Geneticist.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The FECH Gene Genetic Test provides a definitive molecular diagnosis of Erythropoietic Protoporphyria (EPP), an inherited disorder characterised by severe photosensitivity and increased risk of hepatobiliary complications. Using Next-Generation Sequencing (NGS) with full gene coverage, the test detects pathogenic variants in the FECH gene, guiding dermatologists, genetic counsellors, and hepatologists in personalised management and family planning.
| Feature | Our Test (NGS Full Gene Sequencing) | Closest Alternative (Targeted Mutation Panel) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity; detects novel & known mutations | ~85% sensitivity; limited to pre-defined hotspots |
| Methodology | NGS with ACMG variant interpretation | Sanger sequencing of selected exons |
| Turnaround Time | 3โ4 weeks | 4โ6 weeks |
Physician Insight & Safety Protocols
โAs a DHA-licensed Consultant Medical Geneticist, I understand the profound impact a genetic diagnosis of EPP can have on a patientโs quality of life. The FECH gene test provides clear, actionable answers for managing photosensitivity and monitoring liver function. Remember, a positive result must always be correlated with clinical presentation and specialist guidance.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Medication Warning: Do not discontinue any prescribed medication without consulting your doctor. Abruptly stopping treatments for photosensitivity or liver protection can worsen symptoms.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Acute hepatic decompensation or severe anaemia requiring transfusion.
- Patients unable to provide informed consent โ must involve legal guardian under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
Emergency Red Flags
- Sudden severe blistering or burning on sun-exposed skin with fever โ proceed to Emergency Department immediately.
- Jaundice, right upper quadrant pain, or dark urine โ suspect acute liver injury; urgent evaluation.
Patient FAQ & Clinical Guidance
1. What does the FECH gene test detect?
It detects pathogenic variants in the entire FECH gene linked to erythropoietic protoporphyria, providing a definitive molecular diagnosis for lifelong photosensitivity and liver risk management.
2. How is the sample collected for this test?
A VIP mobile phlebotomist collects a standard peripheral blood sample under temperature-controlled cold-chain conditions. Service is available daily from 8 AM to 11 PM across the UAE. Home collection is standard for this blood-based test.
3. When will I receive my results and genetic counselling?
Results are delivered within 3โ4 weeks. A telephonic post-test consultation with a DHA-licensed Consultant Medical Geneticist is included to interpret findings and plan next steps.
4. Is genetic counselling mandatory before the test?
Yes, a mandatory pre-test genetic counselling session is required. The counsellor will explain the testโs scope, potential outcomes, and implications under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
UAE Regulatory & Data Privacy Adherence
Data Protection & Privacy Compliance
All genetic data is processed in full compliance with 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 consent is obtained per Federal Decree-Law No. 4 of 2016 on Medical Liability. No data is shared without explicit authorisation.
Clinical & Logistical Metadata
| Test Name | FECH Gene Sequencing for Erythropoietic Protoporphyria (EPP) |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 weeks |
| Sample Type / Matrix | Peripheral whole blood (3โ5 mL in EDTA tube) |
| Methodology Used | Next-Generation Sequencing (NGS) โ full gene coverage with ACMG variant interpretation |
| ICD-10-CM Code | E80.0 (Erythropoietic protoporphyria) |
| LOINC Code | 81303-8 (FECH gene mutation analysis) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
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