Test Price
2,800 AED✅ Home Collection Available
UROS Gene Congenital Erythropoietic Porphyria (CEP) Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing. All variants are confirmed through secondary confirmatory sequencing.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM, all Emirates).
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation with a senior genetic counselor (included).
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731 — pre‑approval within 2 hours.
Test Overview & Methodology
The UROS gene sequencing test identifies pathogenic variants causing Congenital Erythropoietic Porphyria (CEP), a rare autosomal recessive metabolic disorder presenting with severe photosensitivity, hemolytic anemia, and blistering from infancy. This next-generation sequencing analysis provides a comprehensive genetic diagnosis, essential for personalized management and family planning.
| Feature | Our NGS Test | Sanger Sequencing | Enzyme Assay |
|---|---|---|---|
| Precision | >99.9% analytical sensitivity for SNVs, indels, CNVs | ~99% for targeted regions only | Indirect; may miss silent carriers |
| Method | Illumina NovaSeq, 100× coverage, full gene + flanking introns | Capillary electrophoresis, exon-by-exon | UROS enzyme activity in RBCs |
| Turnaround | 3–4 weeks | 4–6 weeks (if sequential) | 2–3 weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I recognize the complexity and emotional weight of diagnosing rare genetic disorders like Congenital Erythropoietic Porphyria. This UROS gene sequencing test is a highly specific diagnostic tool, but its results must always be interpreted within the full clinical context, including biochemical profiles and family history. I strongly advise all patients to engage in comprehensive pre- and post-test genetic counseling to fully understand the implications of their results.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Precautions
! Medical Advisory
Do not discontinue prescribed medication without consulting your doctor. Genetic testing does not replace clinical management of acute porphyria attacks or ongoing metabolic care.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Individuals without clinical suspicion or positive family history may not require this test.
- Sample must be collected by our certified phlebotomist; self-collection not accepted.
- Recent blood transfusion (< 4 weeks) may interfere with DNA extraction from whole blood.
- Test not intended for standalone forensic or prenatal diagnosis without genetic counseling.
Emergency Red Flags (Seek Immediate Medical Care)
- Severe blistering or burns on sun-exposed skin with systemic symptoms.
- Acute hemolytic crisis — dark urine, pallor, tachycardia, abdominal/back pain.
- Neurological symptoms: seizures, altered consciousness.
- Any signs of liver dysfunction or rapid worsening of photosensitivity.
Patient FAQ & Clinical Guidance
1. What is the purpose of the UROS gene test?
This test detects disease‑causing mutations in the UROS gene to confirm a clinical diagnosis of congenital erythropoietic porphyria and guide treatment. It is highly accurate (sensitivity >99.9%) using next‑generation sequencing and can differentiate CEP from other porphyrias, enabling early specialist intervention.
Clinical Guidance: A positive result should be correlated with biochemical profiles and clinical history; a negative result does not exclude all metabolic disorders.
2. How is the sample collected and what is the turnaround time?
A simple blood draw or DNA sample (FTA card) is collected by our VIP Mobile Phlebotomy team at your home or office via temperature-controlled cold-chain logistics. Results are typically available within 3 to 4 weeks from sample receipt at our ISO‑certified laboratory.
3. Does health insurance cover genetic testing for CEP in the UAE?
Many UAE insurers cover medically necessary genetic testing when pre‑authorized; our dedicated team verifies your coverage, obtains direct billing approval, and shares a pre‑approval confirmation within 2 hours via WhatsApp. Self‑pay packages are also available at 2,800 AED.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Security: Your genetic data is protected under 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. All data is encrypted, stored locally within UAE data centers, and never shared without explicit patient consent. Clinical safety protocols are strictly governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | UROS Gene Congenital Erythropoietic Porphyria (CEP) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or FTA Card (DNA) |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | E80.0 |
| LOINC Code | 21671-7 |
| DHA Facility License & Address | License No: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians